Canonical Allele Identifier: CA64382862

Gene:

Linked Data

• dbSNP Id: rs919317042
• gnomAD v2: 2-200897771-C-T
• gnomAD v3: 2-200033048-C-T
• gnomAD v4: 2-200033048-C-T
• MyVariant Identifiers: chr2:g.200897771C>T (hg19) ; chr2:g.200033048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.200033048C>T , CM000664.2:g.200033048C>T	GRCh38
NC_000002.11:g.200897771C>T , CM000664.1:g.200897771C>T	GRCh37
NC_000002.10:g.200606016C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923778.1:n.178-22152G>A