Canonical Allele Identifier: CA763204489

Gene:

Linked Data

• dbSNP Id: rs1348711521
• gnomAD v3: 2-200033099-C-A
• gnomAD v4: 2-200033099-C-A
• MyVariant Identifiers: chr2:g.200897822C>A (hg19) ; chr2:g.200033099C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033099C>A , CM000664.2:g.200033099C>A	GRCh38
NC_000002.11:g.200897822C>A , CM000664.1:g.200897822C>A	GRCh37
NC_000002.10:g.200606067C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22203G>T