Canonical Allele Identifier: CA54579341

Gene:

Linked Data

• dbSNP Id: rs950509223
• gnomAD v3: 2-118079776-G-A
• gnomAD v4: 2-118079776-G-A
• MyVariant Identifiers: chr2:g.118837352G>A (hg19) ; chr2:g.118079776G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079776G>A , CM000664.2:g.118079776G>A	GRCh38
NC_000002.11:g.118837352G>A , CM000664.1:g.118837352G>A	GRCh37
NC_000002.10:g.118553822G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2244C>T	XP_011510607.1:n.697-2244C>T
XR_001739662.2:n.138+8475C>T