Canonical Allele Identifier: CA1977293949
Community Standard Title: NM_017841.4(SDHAF2):c.347G= (p.Trp116=)
Gene: SDHAF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61438090G= , CM000673.2:g.61438090G= GRCh38
NC_000011.9:g.61205562G= , CM000673.1:g.61205562G= GRCh37
NC_000011.8:g.60962138G= NCBI36
NG_023393.1:g.12966G= , LRG_519:g.12966G=

Transcript Alleles

HGVS Amino-acid Change
NM_017841.4:c.347G= MANE Select NP_060311.1:p.Trp116=
ENST00000301761.7:c.347G= MANE Select ENSP00000301761.3:p.Trp116=
NM_017841.2:c.347G= , LRG_519t1:c.347G= NP_060311.1:p.Trp116=
ENST00000301761.6:c.347G= ENSP00000301761.2:p.Trp116=
ENST00000359614.9:c.347G= ENSP00000352630.5:p.Trp116=
ENST00000534878.5:c.347G= ENSP00000471030.1:p.Trp116=
ENST00000536250.1:c.*349G= ENSP00000471120.1:n.*349G=
ENST00000536670.5:n.373G=
ENST00000537782.5:c.347G= ENSP00000469951.1:p.Trp116=
ENST00000538594.5:c.347G= ENSP00000440939.1:p.Trp116=
ENST00000541135.5:c.347G= ENSP00000443130.1:p.Trp116=
ENST00000542074.1:c.37-7851G= ENSP00000469670.1:n.37-7851G=
ENST00000542794.5:c.*349G= ENSP00000439983.1:n.*349G=
ENST00000543044.2:c.311G= ENSP00000440219.1:p.Trp104=
ENST00000543265.1:c.260+242G= ENSP00000443660.1:n.260+242G=
ENST00000544025.5:n.442G=
ENST00000544801.5:c.347G= ENSP00000442581.1:p.Trp116=
ENST00000544880.1:n.351G=