Canonical Allele Identifier: CA54965473

Gene:

Linked Data

• dbSNP Id: rs963630291
• gnomAD v2: 2-123126452-A-G
• gnomAD v3: 2-122368876-A-G
• gnomAD v4: 2-122368876-A-G
• MyVariant Identifiers: chr2:g.123126452A>G (hg19) ; chr2:g.122368876A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122368876A>G , CM000664.2:g.122368876A>G	GRCh38
NC_000002.11:g.123126452A>G , CM000664.1:g.123126452A>G	GRCh37
NC_000002.10:g.122842922A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-24087A>G
XR_001739684.1:n.556-24087A>G