Canonical Allele Identifier: CA222882213

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1033898583
• gnomAD v2: 11-61213189-T-C
• gnomAD v3: 11-61445717-T-C
• gnomAD v4: 11-61445717-T-C
• MyVariant Identifiers: chr11:g.61213189T>C (hg19) ; chr11:g.61445717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445717T>C , CM000673.2:g.61445717T>C	GRCh38
NC_000011.9:g.61213189T>C , CM000673.1:g.61213189T>C	GRCh37
NC_000011.8:g.60969765T>C	NCBI36
NG_023393.1:g.20593T>C , LRG_519:g.20593T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.371-224T>C MANE Select	ENSP00000301761.3:n.371-224T>C
ENST00000301761.6:c.371-224T>C	ENSP00000301761.2:n.371-224T>C
ENST00000359614.9:c.*79-224T>C	ENSP00000352630.5:n.*79-224T>C
ENST00000536670.5:n.396+7604T>C
ENST00000537782.5:c.*17-224T>C	ENSP00000469951.1:n.*17-224T>C
ENST00000538594.5:c.370+7604T>C	ENSP00000440939.1:n.370+7604T>C
ENST00000541135.5:c.377+7597T>C	ENSP00000443130.1:n.377+7597T>C
ENST00000542074.1:c.37-224T>C	ENSP00000469670.1:n.37-224T>C
ENST00000542794.5:c.*373-224T>C	ENSP00000439983.1:n.*373-224T>C
ENST00000543044.2:c.335-224T>C	ENSP00000440219.1:n.335-224T>C
ENST00000543265.1:c.261-224T>C	ENSP00000443660.1:n.261-224T>C
ENST00000544025.5:n.465+7604T>C
ENST00000544801.5:c.370+7604T>C	ENSP00000442581.1:n.370+7604T>C
ENST00000544880.1:n.374+7604T>C
NM_017841.2:c.371-224T>C , LRG_519t1:c.371-224T>C	NP_060311.1:n.371-224T>C
NM_017841.4:c.371-224T>C MANE Select	NP_060311.1:n.371-224T>C