Canonical Allele Identifier: CA380685254

Gene: SDHAF2

Linked Data

• MyVariant Identifiers: chr11:g.61213426C>T (hg19) ; chr11:g.61445954C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445954C>T , CM000673.2:g.61445954C>T	GRCh38
NC_000011.9:g.61213426C>T , CM000673.1:g.61213426C>T	GRCh37
NC_000011.8:g.60970002C>T	NCBI36
NG_023393.1:g.20830C>T , LRG_519:g.20830C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.384C>T MANE Select	ENSP00000301761.3:p.Ala128=
ENST00000301761.6:c.384C>T	ENSP00000301761.2:p.Ala128=
ENST00000359614.9:c.*92C>T	ENSP00000352630.5:n.*92C>T
ENST00000536670.5:n.396+7841C>T
ENST00000537782.5:c.*30C>T	ENSP00000469951.1:n.*30C>T
ENST00000538594.5:c.370+7841C>T	ENSP00000440939.1:n.370+7841C>T
ENST00000541135.5:c.377+7834C>T	ENSP00000443130.1:n.377+7834C>T
ENST00000542074.1:c.50C>T	ENSP00000469670.1:p.Pro17Leu
ENST00000542794.5:c.*386C>T	ENSP00000439983.1:n.*386C>T
ENST00000543044.2:c.348C>T	ENSP00000440219.1:p.Ala116=
ENST00000543265.1:c.*7C>T	ENSP00000443660.1:n.*7C>T
ENST00000544025.5:n.465+7841C>T
ENST00000544801.5:c.370+7841C>T	ENSP00000442581.1:n.370+7841C>T
ENST00000544880.1:n.374+7841C>T
NM_017841.2:c.384C>T , LRG_519t1:c.384C>T	NP_060311.1:p.Ala128=
NM_017841.4:c.384C>T MANE Select	NP_060311.1:p.Ala128=