Canonical Allele Identifier: CA756632677

Gene:

Linked Data

• dbSNP Id: rs1325989209
• gnomAD v3: 2-127431763-A-G
• gnomAD v4: 2-127431763-A-G
• MyVariant Identifiers: chr2:g.128189339A>G (hg19) ; chr2:g.127431763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127431763A>G , CM000664.2:g.127431763A>G	GRCh38
NC_000002.11:g.128189339A>G , CM000664.1:g.128189339A>G	GRCh37
NC_000002.10:g.127905809A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_923313.1:n.1235T>C
XR_001739705.1:n.3607-3499T>C
XR_923313.2:n.3946T>C