Canonical Allele Identifier: CA43895662

Gene:

Linked Data

• dbSNP Id: rs966821793
• gnomAD v2: 2-20685379-C-T
• gnomAD v3: 2-20485618-C-T
• gnomAD v4: 2-20485618-C-T
• MyVariant Identifiers: chr2:g.20685379C>T (hg19) ; chr2:g.20485618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.20485618C>T , CM000664.2:g.20485618C>T	GRCh38
NC_000002.11:g.20685379C>T , CM000664.1:g.20685379C>T	GRCh37
NC_000002.10:g.20548860C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_157978.1:n.530+3120G>A