Canonical Allele Identifier: CA474523605

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1419133847
• gnomAD v2: 11-61213528-T-C
• gnomAD v3: 11-61446056-T-C
• gnomAD v4: 11-61446056-T-C
• MyVariant Identifiers: chr11:g.61213528T>C (hg19) ; chr11:g.61446056T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446056T>C , CM000673.2:g.61446056T>C	GRCh38
NC_000011.9:g.61213528T>C , CM000673.1:g.61213528T>C	GRCh37
NC_000011.8:g.60970104T>C	NCBI36
NG_023393.1:g.20932T>C , LRG_519:g.20932T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.486T>C MANE Select	ENSP00000301761.3:p.Phe162=
ENST00000301761.6:c.486T>C	ENSP00000301761.2:p.Phe162=
ENST00000536670.5:n.396+7943T>C
ENST00000537782.5:c.*132T>C	ENSP00000469951.1:n.*132T>C
ENST00000538594.5:c.370+7943T>C	ENSP00000440939.1:n.370+7943T>C
ENST00000541135.5:c.377+7936T>C	ENSP00000443130.1:n.377+7936T>C
ENST00000542074.1:c.*65T>C	ENSP00000469670.1:n.*65T>C
ENST00000542794.5:c.*488T>C	ENSP00000439983.1:n.*488T>C
ENST00000543044.2:c.450T>C	ENSP00000440219.1:p.Phe150=
ENST00000543265.1:c.*109T>C	ENSP00000443660.1:n.*109T>C
ENST00000544025.5:n.465+7943T>C
ENST00000544801.5:c.370+7943T>C	ENSP00000442581.1:n.370+7943T>C
ENST00000544880.1:n.374+7943T>C
NM_017841.2:c.486T>C , LRG_519t1:c.486T>C	NP_060311.1:p.Phe162=
NM_017841.4:c.486T>C MANE Select	NP_060311.1:p.Phe162=