Canonical Allele Identifier: CA533610973

Gene:

Linked Data

• dbSNP Id: rs1448050879
• gnomAD v2: 2-67864614-T-A
• gnomAD v3: 2-67637482-T-A
• gnomAD v4: 2-67637482-T-A
• MyVariant Identifiers: chr2:g.67864614T>A (hg19) ; chr2:g.67637482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.67637482T>A , CM000664.2:g.67637482T>A	GRCh38
NC_000002.11:g.67864614T>A , CM000664.1:g.67864614T>A	GRCh37
NC_000002.10:g.67718118T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001739524.1:n.65+13484A>T