Canonical Allele Identifier: CA531280314

Gene:

Linked Data

• dbSNP Id: rs1241744885
• gnomAD v2: 2-18025348-G-A
• gnomAD v3: 2-17844081-G-A
• gnomAD v4: 2-17844081-G-A
• MyVariant Identifiers: chr2:g.18025348G>A (hg19) ; chr2:g.17844081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17844081G>A , CM000664.2:g.17844081G>A	GRCh38
NC_000002.11:g.18025348G>A , CM000664.1:g.18025348G>A	GRCh37
NC_000002.10:g.17888829G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3613C>T