Canonical Allele Identifier: CA531280309

Gene:

Linked Data

• dbSNP Id: rs765845990
• gnomAD v2: 2-18025203-C-A
• gnomAD v3: 2-17843936-C-A
• gnomAD v4: 2-17843936-C-A
• MyVariant Identifiers: chr2:g.18025203C>A (hg19) ; chr2:g.17843936C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17843936C>A , CM000664.2:g.17843936C>A	GRCh38
NC_000002.11:g.18025203C>A , CM000664.1:g.18025203C>A	GRCh37
NC_000002.10:g.17888684C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_939764.2:n.447+3758G>T