Canonical Allele Identifier: CA535280782

Gene:

Linked Data

• dbSNP Id: rs1434989917
• gnomAD v2: 2-118837269-T-C
• gnomAD v3: 2-118079693-T-C
• gnomAD v4: 2-118079693-T-C
• MyVariant Identifiers: chr2:g.118837269T>C (hg19) ; chr2:g.118079693T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079693T>C , CM000664.2:g.118079693T>C	GRCh38
NC_000002.11:g.118837269T>C , CM000664.1:g.118837269T>C	GRCh37
NC_000002.10:g.118553739T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2161A>G	XP_011510607.1:n.697-2161A>G
XR_001739662.2:n.138+8558A>G