Canonical Allele Identifier: CA534638436

Gene:

Linked Data

• dbSNP Id: rs1389617752
• gnomAD v2: 2-88315799-C-T
• gnomAD v3: 2-88016280-C-T
• gnomAD v4: 2-88016280-C-T
• MyVariant Identifiers: chr2:g.88315799C>T (hg19) ; chr2:g.88016280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016280C>T , CM000664.2:g.88016280C>T	GRCh38
NC_000002.11:g.88315799C>T , CM000664.1:g.88315799C>T	GRCh37
NC_000002.10:g.88096914C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.625C>T
XR_940336.3:n.625C>T