Canonical Allele Identifier: CA535280781

Gene:

Linked Data

• dbSNP Id: rs1356741343
• gnomAD v2: 2-118837265-T-C
• gnomAD v3: 2-118079689-T-C
• gnomAD v4: 2-118079689-T-C
• MyVariant Identifiers: chr2:g.118837265T>C (hg19) ; chr2:g.118079689T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079689T>C , CM000664.2:g.118079689T>C	GRCh38
NC_000002.11:g.118837265T>C , CM000664.1:g.118837265T>C	GRCh37
NC_000002.10:g.118553735T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2157A>G	XP_011510607.1:n.697-2157A>G
XR_001739662.2:n.138+8562A>G