Canonical Allele Identifier: CA10631076

Gene: SDHAF2

Linked Data

• ClinVar Variation Id: 305102
• ClinVar RCV Id: RCV000301552
• dbSNP Id: rs886048420
• gnomAD v2: 11-61213932-C-T
• gnomAD v3: 11-61446460-C-T
• gnomAD v4: 11-61446460-C-T
• MyVariant Identifiers: chr11:g.61213932C>T (hg19) ; chr11:g.61446460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446460C>T , CM000673.2:g.61446460C>T	GRCh38
NC_000011.9:g.61213932C>T , CM000673.1:g.61213932C>T	GRCh37
NC_000011.8:g.60970508C>T	NCBI36
NG_023393.1:g.21336C>T , LRG_519:g.21336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*389C>T MANE Select	ENSP00000301761.3:n.*389C>T
ENST00000301761.6:c.*389C>T	ENSP00000301761.2:n.*389C>T
ENST00000536670.5:n.396+8347C>T
ENST00000538594.5:c.370+8347C>T	ENSP00000440939.1:n.370+8347C>T
ENST00000541135.5:c.377+8340C>T	ENSP00000443130.1:n.377+8340C>T
ENST00000542074.1:c.*469C>T	ENSP00000469670.1:n.*469C>T
ENST00000543044.2:c.*160+229C>T	ENSP00000440219.1:n.*160+229C>T
ENST00000544025.5:n.465+8347C>T
ENST00000544801.5:c.370+8347C>T	ENSP00000442581.1:n.370+8347C>T
ENST00000544880.1:n.374+8347C>T
NM_017841.2:c.*389C>T , LRG_519t1:c.*389C>T	NP_060311.1:n.*389C>T
NM_017841.4:c.*389C>T MANE Select	NP_060311.1:n.*389C>T