Canonical Allele Identifier: CA2603855044

Gene:

Linked Data

• dbSNP Id: rs2104511520
• gnomAD v3: 2-118079721-T-A
• gnomAD v4: 2-118079721-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.118079721T>A , CM000664.2:g.118079721T>A	GRCh38
NC_000002.11:g.118837297T>A , CM000664.1:g.118837297T>A	GRCh37
NC_000002.10:g.118553767T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512305.1:c.697-2189A>T	XP_011510607.1:n.697-2189A>T
XR_001739662.2:n.138+8530A>T