Canonical Allele Identifier: CA51878266

Gene:

Linked Data

• dbSNP Id: rs190412425
• gnomAD v3: 2-88016086-C-G
• gnomAD v4: 2-88016086-C-G
• MyVariant Identifiers: chr2:g.88315605C>G (hg19) ; chr2:g.88016086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016086C>G , CM000664.2:g.88016086C>G	GRCh38
NC_000002.11:g.88315605C>G , CM000664.1:g.88315605C>G	GRCh37
NC_000002.10:g.88096720C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.431C>G
XR_940336.3:n.431C>G