Canonical Allele Identifier: CA51878301

Gene:

Linked Data

• dbSNP Id: rs530118275
• gnomAD v2: 2-88315724-C-T
• gnomAD v3: 2-88016205-C-T
• gnomAD v4: 2-88016205-C-T
• MyVariant Identifiers: chr2:g.88315724C>T (hg19) ; chr2:g.88016205C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016205C>T , CM000664.2:g.88016205C>T	GRCh38
NC_000002.11:g.88315724C>T , CM000664.1:g.88315724C>T	GRCh37
NC_000002.10:g.88096839C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.550C>T
XR_940336.3:n.550C>T