Canonical Allele Identifier: CA678946541

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1191017729
• gnomAD v3: 11-61446503-T-C
• gnomAD v4: 11-61446503-T-C
• MyVariant Identifiers: chr11:g.61213975T>C (hg19) ; chr11:g.61446503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446503T>C , CM000673.2:g.61446503T>C	GRCh38
NC_000011.9:g.61213975T>C , CM000673.1:g.61213975T>C	GRCh37
NC_000011.8:g.60970551T>C	NCBI36
NG_023393.1:g.21379T>C , LRG_519:g.21379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*432T>C MANE Select	ENSP00000301761.3:n.*432T>C
ENST00000301761.6:c.*432T>C	ENSP00000301761.2:n.*432T>C
ENST00000536670.5:n.396+8390T>C
ENST00000538594.5:c.370+8390T>C	ENSP00000440939.1:n.370+8390T>C
ENST00000541135.5:c.377+8383T>C	ENSP00000443130.1:n.377+8383T>C
ENST00000542074.1:c.*512T>C	ENSP00000469670.1:n.*512T>C
ENST00000543044.2:c.*160+272T>C	ENSP00000440219.1:n.*160+272T>C
ENST00000544025.5:n.465+8390T>C
ENST00000544801.5:c.370+8390T>C	ENSP00000442581.1:n.370+8390T>C
ENST00000544880.1:n.374+8390T>C
NM_017841.2:c.*432T>C , LRG_519t1:c.*432T>C	NP_060311.1:n.*432T>C
NM_017841.4:c.*432T>C MANE Select	NP_060311.1:n.*432T>C