Canonical Allele Identifier: CA599504147

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1476965739
• gnomAD v2: 11-61213589-A-G
• MyVariant Identifiers: chr11:g.61213589A>G (hg19) ; chr11:g.61446117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446117A>G , CM000673.2:g.61446117A>G	GRCh38
NC_000011.9:g.61213589A>G , CM000673.1:g.61213589A>G	GRCh37
NC_000011.8:g.60970165A>G	NCBI36
NG_023393.1:g.20993A>G , LRG_519:g.20993A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301761.7:c.*46A>G MANE Select	ENSP00000301761.3:n.*46A>G
ENST00000301761.6:c.*46A>G	ENSP00000301761.2:n.*46A>G
ENST00000536670.5:n.396+8004A>G
ENST00000538594.5:c.370+8004A>G	ENSP00000440939.1:n.370+8004A>G
ENST00000541135.5:c.377+7997A>G	ENSP00000443130.1:n.377+7997A>G
ENST00000542074.1:c.*126A>G	ENSP00000469670.1:n.*126A>G
ENST00000542794.5:c.*549A>G	ENSP00000439983.1:n.*549A>G
ENST00000543044.2:c.*46A>G	ENSP00000440219.1:n.*46A>G
ENST00000544025.5:n.465+8004A>G
ENST00000544801.5:c.370+8004A>G	ENSP00000442581.1:n.370+8004A>G
ENST00000544880.1:n.374+8004A>G
NM_017841.2:c.*46A>G , LRG_519t1:c.*46A>G	NP_060311.1:n.*46A>G
NM_017841.4:c.*46A>G MANE Select	NP_060311.1:n.*46A>G