Canonical Allele Identifier: CA057976

Gene: SDHAF2

Linked Data

• dbSNP Id: rs759866664
• ExAC: 11:61213563 C / A
• gnomAD v2: 11-61213563-C-A
• gnomAD v3: 11-61446091-C-A
• gnomAD v4: 11-61446091-C-A
• MyVariant Identifiers: chr11:g.61213563C>A (hg19) ; chr11:g.61446091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446091C>A , CM000673.2:g.61446091C>A	GRCh38
NC_000011.9:g.61213563C>A , CM000673.1:g.61213563C>A	GRCh37
NC_000011.8:g.60970139C>A	NCBI36
NG_023393.1:g.20967C>A , LRG_519:g.20967C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301761.7:c.*20C>A MANE Select	ENSP00000301761.3:n.*20C>A
ENST00000301761.6:c.*20C>A	ENSP00000301761.2:n.*20C>A
ENST00000536670.5:n.396+7978C>A
ENST00000538594.5:c.370+7978C>A	ENSP00000440939.1:n.370+7978C>A
ENST00000541135.5:c.377+7971C>A	ENSP00000443130.1:n.377+7971C>A
ENST00000542074.1:c.*100C>A	ENSP00000469670.1:n.*100C>A
ENST00000542794.5:c.*523C>A	ENSP00000439983.1:n.*523C>A
ENST00000543044.2:c.*20C>A	ENSP00000440219.1:n.*20C>A
ENST00000543265.1:c.*144C>A	ENSP00000443660.1:n.*144C>A
ENST00000544025.5:n.465+7978C>A
ENST00000544801.5:c.370+7978C>A	ENSP00000442581.1:n.370+7978C>A
ENST00000544880.1:n.374+7978C>A
NM_017841.2:c.*20C>A , LRG_519t1:c.*20C>A	NP_060311.1:n.*20C>A
NM_017841.4:c.*20C>A MANE Select	NP_060311.1:n.*20C>A