Canonical Allele Identifier: CA380685702
Gene: SDHAF2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61446071A>C , CM000673.2:g.61446071A>C GRCh38
NC_000011.9:g.61213543A>C , CM000673.1:g.61213543A>C GRCh37
NC_000011.8:g.60970119A>C NCBI36
NG_023393.1:g.20947A>C , LRG_519:g.20947A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301761.7:c.501A>C MANE Select ENSP00000301761.3:p.Ter167Cys
ENST00000301761.6:c.501A>C ENSP00000301761.2:p.Ter167Cys
ENST00000536670.5:n.396+7958A>C
ENST00000538594.5:c.370+7958A>C ENSP00000440939.1:n.370+7958A>C
ENST00000541135.5:c.377+7951A>C ENSP00000443130.1:n.377+7951A>C
ENST00000542074.1:c.*80A>C ENSP00000469670.1:n.*80A>C
ENST00000542794.5:c.*503A>C ENSP00000439983.1:n.*503A>C
ENST00000543044.2:c.465A>C ENSP00000440219.1:p.Ter155Cys
ENST00000543265.1:c.*124A>C ENSP00000443660.1:n.*124A>C
ENST00000544025.5:n.465+7958A>C
ENST00000544801.5:c.370+7958A>C ENSP00000442581.1:n.370+7958A>C
ENST00000544880.1:n.374+7958A>C
NM_017841.2:c.501A>C , LRG_519t1:c.501A>C NP_060311.1:p.Ter167Cys
NM_017841.4:c.501A>C MANE Select NP_060311.1:p.Ter167Cys