Canonical Allele Identifier: CA43588553

Gene:

Linked Data

• dbSNP Id: rs966892136
• gnomAD v3: 2-17843945-A-C
• gnomAD v4: 2-17843945-A-C
• MyVariant Identifiers: chr2:g.18025212A>C (hg19) ; chr2:g.17843945A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17843945A>C , CM000664.2:g.17843945A>C	GRCh38
NC_000002.11:g.18025212A>C , CM000664.1:g.18025212A>C	GRCh37
NC_000002.10:g.17888693A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3749T>G