Canonical Allele Identifier: CA55081995

Gene:

Linked Data

• dbSNP Id: rs1031939971
• gnomAD v2: 2-123641421-A-G
• gnomAD v3: 2-122883845-A-G
• gnomAD v4: 2-122883845-A-G
• MyVariant Identifiers: chr2:g.123641421A>G (hg19) ; chr2:g.122883845A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122883845A>G , CM000664.2:g.122883845A>G	GRCh38
NC_000002.11:g.123641421A>G , CM000664.1:g.123641421A>G	GRCh37
NC_000002.10:g.123357891A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-1097A>G
XR_001739692.1:n.1451-1097A>G
XR_923292.2:n.1358-1097A>G