Canonical Allele Identifier: CA531280311

Gene:

Linked Data

• dbSNP Id: rs1347533602
• gnomAD v2: 2-18025221-T-C
• MyVariant Identifiers: chr2:g.18025221T>C (hg19) ; chr2:g.17843954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17843954T>C , CM000664.2:g.17843954T>C	GRCh38
NC_000002.11:g.18025221T>C , CM000664.1:g.18025221T>C	GRCh37
NC_000002.10:g.17888702T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3740A>G