Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 2:21006288 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM055087, CM890006

Most severe consequence
Evidence status

Clinical significance

This variation has 3 synonyms - click the plus to show

This variation has 5 HGVS names - click the plus to show

2:g.21006288C>T
ENST00000616098.2:c.10580G>A
ENSP00000477990.1:p.Arg3527Gln
ENST00000233242.3:c.10580G>A
ENSP00000233242.1:p.Arg3527Gln

Genotyping chips

This variation has assays on: Illumina_ExomeChip, Illumina_ImmunoChip, HumanCoreExome-12

Variation displays