Canonical Allele Identifier: CA938587078

Gene: SDHAF2

Linked Data

• dbSNP Id: rs2134902728
• gnomAD v3: 11-61446484-T-A
• gnomAD v4: 11-61446484-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446484T>A , CM000673.2:g.61446484T>A	GRCh38
NC_000011.9:g.61213956T>A , CM000673.1:g.61213956T>A	GRCh37
NC_000011.8:g.60970532T>A	NCBI36
NG_023393.1:g.21360T>A , LRG_519:g.21360T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*413T>A MANE Select	ENSP00000301761.3:n.*413T>A
ENST00000301761.6:c.*413T>A	ENSP00000301761.2:n.*413T>A
ENST00000536670.5:n.396+8371T>A
ENST00000538594.5:c.370+8371T>A	ENSP00000440939.1:n.370+8371T>A
ENST00000541135.5:c.377+8364T>A	ENSP00000443130.1:n.377+8364T>A
ENST00000542074.1:c.*493T>A	ENSP00000469670.1:n.*493T>A
ENST00000543044.2:c.*160+253T>A	ENSP00000440219.1:n.*160+253T>A
ENST00000544025.5:n.465+8371T>A
ENST00000544801.5:c.370+8371T>A	ENSP00000442581.1:n.370+8371T>A
ENST00000544880.1:n.374+8371T>A
NM_017841.2:c.*413T>A , LRG_519t1:c.*413T>A	NP_060311.1:n.*413T>A
NM_017841.4:c.*413T>A MANE Select	NP_060311.1:n.*413T>A