Canonical Allele Identifier: CA763204476

Gene:

Linked Data

• dbSNP Id: rs1294468050
• gnomAD v3: 2-200033072-C-T
• gnomAD v4: 2-200033072-C-T
• MyVariant Identifiers: chr2:g.200897795C>T (hg19) ; chr2:g.200033072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033072C>T , CM000664.2:g.200033072C>T	GRCh38
NC_000002.11:g.200897795C>T , CM000664.1:g.200897795C>T	GRCh37
NC_000002.10:g.200606040C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22176G>A