Canonical Allele Identifier: CA55082003

Gene:

Linked Data

• dbSNP Id: rs537079400
• gnomAD v2: 2-123641441-A-G
• gnomAD v3: 2-122883865-A-G
• gnomAD v4: 2-122883865-A-G
• MyVariant Identifiers: chr2:g.123641441A>G (hg19) ; chr2:g.122883865A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883865A>G , CM000664.2:g.122883865A>G	GRCh38
NC_000002.11:g.123641441A>G , CM000664.1:g.123641441A>G	GRCh37
NC_000002.10:g.123357911A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1077A>G
XR_001739692.1:n.1451-1077A>G
XR_923292.2:n.1358-1077A>G