Canonical Allele Identifier: CA938587025

Gene: SDHAF2

Linked Data

• dbSNP Id: rs1862138216
• gnomAD v3: 11-61446355-CGA-C
• gnomAD v4: 11-61446355-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446359_61446360del , CM000673.2:g.61446359_61446360del	GRCh38
NC_000011.9:g.61213831_61213832del , CM000673.1:g.61213831_61213832del	GRCh37
NC_000011.8:g.60970407_60970408del	NCBI36
NG_023393.1:g.21235_21236del , LRG_519:g.21235_21236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.*288_*289del MANE Select	ENSP00000301761.3:n.*288_*289del
ENST00000301761.6:c.*288_*289del	ENSP00000301761.2:n.*288_*289del
ENST00000536670.5:n.396+8246_396+8247del
ENST00000538594.5:c.370+8246_370+8247del	ENSP00000440939.1:n.370+8246_370+8247del
ENST00000541135.5:c.377+8239_377+8240del	ENSP00000443130.1:n.377+8239_377+8240del
ENST00000542074.1:c.*368_*369del	ENSP00000469670.1:n.*368_*369del
ENST00000543044.2:c.*160+128_*160+129del	ENSP00000440219.1:n.*160+128_*160+129del
ENST00000544025.5:n.465+8246_465+8247del
ENST00000544801.5:c.370+8246_370+8247del	ENSP00000442581.1:n.370+8246_370+8247del
ENST00000544880.1:n.374+8246_374+8247del
NM_017841.2:c.*288_*289del , LRG_519t1:c.*288_*289del	NP_060311.1:n.*288_*289del
NM_017841.4:c.*288_*289del MANE Select	NP_060311.1:n.*288_*289del