Canonical Allele Identifier: CA51878346

Gene:

Linked Data

• dbSNP Id: rs138456684
• gnomAD v2: 2-88315831-G-C
• gnomAD v3: 2-88016312-G-C
• gnomAD v4: 2-88016312-G-C
• MyVariant Identifiers: chr2:g.88315831G>C (hg19) ; chr2:g.88016312G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88016312G>C , CM000664.2:g.88016312G>C	GRCh38
NC_000002.11:g.88315831G>C , CM000664.1:g.88315831G>C	GRCh37
NC_000002.10:g.88096946G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940335.3:n.657G>C
XR_940336.3:n.657G>C