Canonical Allele Identifier: CA059650

Gene: SDHAF2

Linked Data

• dbSNP Id: rs749776601
• ExAC: 11:61213552 C / T
• gnomAD v2: 11-61213552-C-T
• gnomAD v4: 11-61446080-C-T
• MyVariant Identifiers: chr11:g.61213552C>T (hg19) ; chr11:g.61446080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446080C>T , CM000673.2:g.61446080C>T	GRCh38
NC_000011.9:g.61213552C>T , CM000673.1:g.61213552C>T	GRCh37
NC_000011.8:g.60970128C>T	NCBI36
NG_023393.1:g.20956C>T , LRG_519:g.20956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*9C>T MANE Select	ENSP00000301761.3:n.*9C>T
ENST00000301761.6:c.*9C>T	ENSP00000301761.2:n.*9C>T
ENST00000536670.5:n.396+7967C>T
ENST00000538594.5:c.370+7967C>T	ENSP00000440939.1:n.370+7967C>T
ENST00000541135.5:c.377+7960C>T	ENSP00000443130.1:n.377+7960C>T
ENST00000542074.1:c.*89C>T	ENSP00000469670.1:n.*89C>T
ENST00000542794.5:c.*512C>T	ENSP00000439983.1:n.*512C>T
ENST00000543044.2:c.*9C>T	ENSP00000440219.1:n.*9C>T
ENST00000543265.1:c.*133C>T	ENSP00000443660.1:n.*133C>T
ENST00000544025.5:n.465+7967C>T
ENST00000544801.5:c.370+7967C>T	ENSP00000442581.1:n.370+7967C>T
ENST00000544880.1:n.374+7967C>T
NM_017841.2:c.*9C>T , LRG_519t1:c.*9C>T	NP_060311.1:n.*9C>T
NM_017841.4:c.*9C>T MANE Select	NP_060311.1:n.*9C>T