Canonical Allele Identifier: CA538890449

Gene:

Linked Data

• dbSNP Id: rs1181642570
• gnomAD v2: 2-200898039-A-G
• gnomAD v3: 2-200033316-A-G
• gnomAD v4: 2-200033316-A-G
• MyVariant Identifiers: chr2:g.200898039A>G (hg19) ; chr2:g.200033316A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033316A>G , CM000664.2:g.200033316A>G	GRCh38
NC_000002.11:g.200898039A>G , CM000664.1:g.200898039A>G	GRCh37
NC_000002.10:g.200606284A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22420T>C