Canonical Allele Identifier: CA380685563

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 1062125
• ClinVar RCV Id: RCV001371805
• dbSNP Id: rs2134902155
• gnomAD v4: 11-61446048-T-C
• MyVariant Identifiers: chr11:g.61213520T>C (hg19) ; chr11:g.61446048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446048T>C , CM000673.2:g.61446048T>C	GRCh38
NC_000011.9:g.61213520T>C , CM000673.1:g.61213520T>C	GRCh37
NC_000011.8:g.60970096T>C	NCBI36
NG_023393.1:g.20924T>C , LRG_519:g.20924T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.478T>C MANE Select	ENSP00000301761.3:p.Tyr160His
ENST00000301761.6:c.478T>C	ENSP00000301761.2:p.Tyr160His
ENST00000536670.5:n.396+7935T>C
ENST00000537782.5:c.*124T>C	ENSP00000469951.1:n.*124T>C
ENST00000538594.5:c.370+7935T>C	ENSP00000440939.1:n.370+7935T>C
ENST00000541135.5:c.377+7928T>C	ENSP00000443130.1:n.377+7928T>C
ENST00000542074.1:c.*57T>C	ENSP00000469670.1:n.*57T>C
ENST00000542794.5:c.*480T>C	ENSP00000439983.1:n.*480T>C
ENST00000543044.2:c.442T>C	ENSP00000440219.1:p.Tyr148His
ENST00000543265.1:c.*101T>C	ENSP00000443660.1:n.*101T>C
ENST00000544025.5:n.465+7935T>C
ENST00000544801.5:c.370+7935T>C	ENSP00000442581.1:n.370+7935T>C
ENST00000544880.1:n.374+7935T>C
NM_017841.2:c.478T>C , LRG_519t1:c.478T>C	NP_060311.1:p.Tyr160His
NM_017841.4:c.478T>C MANE Select	NP_060311.1:p.Tyr160His