Canonical Allele Identifier: CA058515

Gene: SDHAF2

Linked Data

• dbSNP Id: rs114594435
• ExAC: 11:61213576 T / C
• gnomAD v2: 11-61213576-T-C
• gnomAD v3: 11-61446104-T-C
• gnomAD v4: 11-61446104-T-C
• MyVariant Identifiers: chr11:g.61213576T>C (hg19) ; chr11:g.61446104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446104T>C , CM000673.2:g.61446104T>C	GRCh38
NC_000011.9:g.61213576T>C , CM000673.1:g.61213576T>C	GRCh37
NC_000011.8:g.60970152T>C	NCBI36
NG_023393.1:g.20980T>C , LRG_519:g.20980T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301761.7:c.*33T>C MANE Select	ENSP00000301761.3:n.*33T>C
ENST00000301761.6:c.*33T>C	ENSP00000301761.2:n.*33T>C
ENST00000536670.5:n.396+7991T>C
ENST00000538594.5:c.370+7991T>C	ENSP00000440939.1:n.370+7991T>C
ENST00000541135.5:c.377+7984T>C	ENSP00000443130.1:n.377+7984T>C
ENST00000542074.1:c.*113T>C	ENSP00000469670.1:n.*113T>C
ENST00000542794.5:c.*536T>C	ENSP00000439983.1:n.*536T>C
ENST00000543044.2:c.*33T>C	ENSP00000440219.1:n.*33T>C
ENST00000543265.1:c.*157T>C	ENSP00000443660.1:n.*157T>C
ENST00000544025.5:n.465+7991T>C
ENST00000544801.5:c.370+7991T>C	ENSP00000442581.1:n.370+7991T>C
ENST00000544880.1:n.374+7991T>C
NM_017841.2:c.*33T>C , LRG_519t1:c.*33T>C	NP_060311.1:n.*33T>C
NM_017841.4:c.*33T>C MANE Select	NP_060311.1:n.*33T>C