Canonical Allele Identifier: CA43895667

Gene:

Linked Data

• dbSNP Id: rs900313837
• gnomAD v3: 2-20485651-C-A
• gnomAD v4: 2-20485651-C-A
• MyVariant Identifiers: chr2:g.20685412C>A (hg19) ; chr2:g.20485651C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485651C>A , CM000664.2:g.20485651C>A	GRCh38
NC_000002.11:g.20685412C>A , CM000664.1:g.20685412C>A	GRCh37
NC_000002.10:g.20548893C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+3087G>T