Canonical Allele Identifier: CA938586760

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1862129316
• gnomAD v3: 11-61445724-T-C
• gnomAD v4: 11-61445724-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61445724T>C , CM000673.2:g.61445724T>C	GRCh38
NC_000011.9:g.61213196T>C , CM000673.1:g.61213196T>C	GRCh37
NC_000011.8:g.60969772T>C	NCBI36
NG_023393.1:g.20600T>C , LRG_519:g.20600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.371-217T>C MANE Select	ENSP00000301761.3:n.371-217T>C
ENST00000301761.6:c.371-217T>C	ENSP00000301761.2:n.371-217T>C
ENST00000359614.9:c.*79-217T>C	ENSP00000352630.5:n.*79-217T>C
ENST00000536670.5:n.396+7611T>C
ENST00000537782.5:c.*17-217T>C	ENSP00000469951.1:n.*17-217T>C
ENST00000538594.5:c.370+7611T>C	ENSP00000440939.1:n.370+7611T>C
ENST00000541135.5:c.377+7604T>C	ENSP00000443130.1:n.377+7604T>C
ENST00000542074.1:c.37-217T>C	ENSP00000469670.1:n.37-217T>C
ENST00000542794.5:c.*373-217T>C	ENSP00000439983.1:n.*373-217T>C
ENST00000543044.2:c.335-217T>C	ENSP00000440219.1:n.335-217T>C
ENST00000543265.1:c.261-217T>C	ENSP00000443660.1:n.261-217T>C
ENST00000544025.5:n.465+7611T>C
ENST00000544801.5:c.370+7611T>C	ENSP00000442581.1:n.370+7611T>C
ENST00000544880.1:n.374+7611T>C
NM_017841.2:c.371-217T>C , LRG_519t1:c.371-217T>C	NP_060311.1:n.371-217T>C
NM_017841.4:c.371-217T>C MANE Select	NP_060311.1:n.371-217T>C