Canonical Allele Identifier: CA535800189

Gene:

Linked Data

• dbSNP Id: rs1318659561
• gnomAD v2: 2-123641688-T-C
• gnomAD v3: 2-122884112-T-C
• gnomAD v4: 2-122884112-T-C
• MyVariant Identifiers: chr2:g.123641688T>C (hg19) ; chr2:g.122884112T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122884112T>C , CM000664.2:g.122884112T>C	GRCh38
NC_000002.11:g.123641688T>C , CM000664.1:g.123641688T>C	GRCh37
NC_000002.10:g.123358158T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923292.1:n.1125-830T>C
XR_001739692.1:n.1451-830T>C
XR_923292.2:n.1358-830T>C