Canonical Allele Identifier: CA43588665

Gene:

Linked Data

• dbSNP Id: rs561428748
• gnomAD v2: 2-18025349-G-T
• gnomAD v3: 2-17844082-G-T
• gnomAD v4: 2-17844082-G-T
• MyVariant Identifiers: chr2:g.18025349G>T (hg19) ; chr2:g.17844082G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17844082G>T , CM000664.2:g.17844082G>T	GRCh38
NC_000002.11:g.18025349G>T , CM000664.1:g.18025349G>T	GRCh37
NC_000002.10:g.17888830G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3612C>A