Canonical Allele Identifier: CA54579293

Gene:

Linked Data

• dbSNP Id: rs574519975
• gnomAD v3: 2-118079700-T-C
• gnomAD v4: 2-118079700-T-C
• MyVariant Identifiers: chr2:g.118837276T>C (hg19) ; chr2:g.118079700T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079700T>C , CM000664.2:g.118079700T>C	GRCh38
NC_000002.11:g.118837276T>C , CM000664.1:g.118837276T>C	GRCh37
NC_000002.10:g.118553746T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2168A>G	XP_011510607.1:n.697-2168A>G
XR_001739662.2:n.138+8551A>G