Canonical Allele Identifier: CA54579253

Gene:

Linked Data

• dbSNP Id: rs1045825866
• gnomAD v2: 2-118837187-A-G
• gnomAD v3: 2-118079611-A-G
• gnomAD v4: 2-118079611-A-G
• MyVariant Identifiers: chr2:g.118837187A>G (hg19) ; chr2:g.118079611A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079611A>G , CM000664.2:g.118079611A>G	GRCh38
NC_000002.11:g.118837187A>G , CM000664.1:g.118837187A>G	GRCh37
NC_000002.10:g.118553657A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2079T>C	XP_011510607.1:n.697-2079T>C
XR_001739662.2:n.138+8640T>C