Canonical Allele Identifier: CA380685242

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213422C>T (hg19) ; chr11:g.61445950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445950C>T , CM000673.2:g.61445950C>T	GRCh38
NC_000011.9:g.61213422C>T , CM000673.1:g.61213422C>T	GRCh37
NC_000011.8:g.60969998C>T	NCBI36
NG_023393.1:g.20826C>T , LRG_519:g.20826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.380C>T MANE Select	ENSP00000301761.3:p.Pro127Leu
ENST00000301761.6:c.380C>T	ENSP00000301761.2:p.Pro127Leu
ENST00000359614.9:c.*88C>T	ENSP00000352630.5:n.*88C>T
ENST00000536670.5:n.396+7837C>T
ENST00000537782.5:c.*26C>T	ENSP00000469951.1:n.*26C>T
ENST00000538594.5:c.370+7837C>T	ENSP00000440939.1:n.370+7837C>T
ENST00000541135.5:c.377+7830C>T	ENSP00000443130.1:n.377+7830C>T
ENST00000542074.1:c.46C>T	ENSP00000469670.1:p.Gln16Ter
ENST00000542794.5:c.*382C>T	ENSP00000439983.1:n.*382C>T
ENST00000543044.2:c.344C>T	ENSP00000440219.1:p.Pro115Leu
ENST00000543265.1:c.*3C>T	ENSP00000443660.1:n.*3C>T
ENST00000544025.5:n.465+7837C>T
ENST00000544801.5:c.370+7837C>T	ENSP00000442581.1:n.370+7837C>T
ENST00000544880.1:n.374+7837C>T
NM_017841.2:c.380C>T , LRG_519t1:c.380C>T	NP_060311.1:p.Pro127Leu
NM_017841.4:c.380C>T MANE Select	NP_060311.1:p.Pro127Leu