Canonical Allele Identifier: CA59107068

Gene:

Linked Data

• dbSNP Id: rs1049508216
• gnomAD v2: 2-156726936-T-C
• gnomAD v3: 2-155870424-T-C
• gnomAD v4: 2-155870424-T-C
• MyVariant Identifiers: chr2:g.156726936T>C (hg19) ; chr2:g.155870424T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.155870424T>C , CM000664.2:g.155870424T>C	GRCh38
NC_000002.11:g.156726936T>C , CM000664.1:g.156726936T>C	GRCh37
NC_000002.10:g.156435182T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923501.1:n.320-3237A>G
XR_001739749.1:n.331-29440A>G
XR_001739750.1:n.331-29440A>G
XR_001739751.1:n.331-29440A>G
XR_923501.2:n.331-3237A>G