Canonical Allele Identifier: CA43588516

Gene:

Linked Data

• dbSNP Id: rs16983956
• gnomAD v2: 2-18025198-T-C
• gnomAD v3: 2-17843931-T-C
• gnomAD v4: 2-17843931-T-C
• MyVariant Identifiers: chr2:g.18025198T>C (hg19) ; chr2:g.17843931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17843931T>C , CM000664.2:g.17843931T>C	GRCh38
NC_000002.11:g.18025198T>C , CM000664.1:g.18025198T>C	GRCh37
NC_000002.10:g.17888679T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3763A>G