Canonical Allele Identifier: CA059253

Gene: SDHAF2

Linked Data

• dbSNP Id: rs753897175
• ExAC: 11:61213582 G / A
• gnomAD v2: 11-61213582-G-A
• gnomAD v4: 11-61446110-G-A
• MyVariant Identifiers: chr11:g.61213582G>A (hg19) ; chr11:g.61446110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446110G>A , CM000673.2:g.61446110G>A	GRCh38
NC_000011.9:g.61213582G>A , CM000673.1:g.61213582G>A	GRCh37
NC_000011.8:g.60970158G>A	NCBI36
NG_023393.1:g.20986G>A , LRG_519:g.20986G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301761.7:c.*39G>A MANE Select	ENSP00000301761.3:n.*39G>A
ENST00000301761.6:c.*39G>A	ENSP00000301761.2:n.*39G>A
ENST00000536670.5:n.396+7997G>A
ENST00000538594.5:c.370+7997G>A	ENSP00000440939.1:n.370+7997G>A
ENST00000541135.5:c.377+7990G>A	ENSP00000443130.1:n.377+7990G>A
ENST00000542074.1:c.*119G>A	ENSP00000469670.1:n.*119G>A
ENST00000542794.5:c.*542G>A	ENSP00000439983.1:n.*542G>A
ENST00000543044.2:c.*39G>A	ENSP00000440219.1:n.*39G>A
ENST00000543265.1:c.*163G>A	ENSP00000443660.1:n.*163G>A
ENST00000544025.5:n.465+7997G>A
ENST00000544801.5:c.370+7997G>A	ENSP00000442581.1:n.370+7997G>A
ENST00000544880.1:n.374+7997G>A
NM_017841.2:c.*39G>A , LRG_519t1:c.*39G>A	NP_060311.1:n.*39G>A
NM_017841.4:c.*39G>A MANE Select	NP_060311.1:n.*39G>A