Canonical Allele Identifier: CA2680993700

Gene: SOD2

Linked Data

• gnomAD v4: 6-159688186-GACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159688194_159688196del , CM000668.2:g.159688194_159688196del	GRCh38
NC_000006.11:g.160109226_160109228del , CM000668.1:g.160109226_160109228del	GRCh37
NC_000006.10:g.160029216_160029218del	NCBI36
NG_008729.1:g.10133_10135del
NG_008729.3:g.79341_79343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.280_282del MANE Select	ENSP00000446252.1:p.Gly94del
ENST00000337404.8:c.227-3156_227-3154del	ENSP00000337127.4:n.227-3156_227-3154del
ENST00000367054.6:c.227-3156_227-3154del	ENSP00000356021.2:n.227-3156_227-3154del
ENST00000367055.8:c.280_282del	ENSP00000356022.4:p.Gly94del
ENST00000401980.3:c.89-3156_89-3154del	ENSP00000384196.3:n.89-3156_89-3154del
ENST00000444946.6:c.280_282del	ENSP00000404804.2:p.Gly94del
ENST00000535459.5:n.160_162del
ENST00000535561.5:c.349_351del	ENSP00000445015.1:p.Gly117del
ENST00000537657.5:c.142_144del	ENSP00000439191.1:p.Gly48del
ENST00000538183.6:c.280_282del	ENSP00000446252.1:p.Gly94del
ENST00000540491.1:n.246-3156_246-3154del
ENST00000541573.5:n.173_175del
ENST00000545162.5:c.349_351del	ENSP00000441362.1:p.Gly117del
ENST00000546087.5:c.142_144del	ENSP00000442920.1:p.Gly48del
ENST00000546260.5:c.410_412del	ENSP00000440131.1:p.Trp137del
NM_000636.2:c.280_282del	NP_000627.2:p.Gly94del
NM_001024465.1:c.280_282del	NP_001019636.1:p.Gly94del
NM_001024466.1:c.227-3156_227-3154del	NP_001019637.1:n.227-3156_227-3154del
NM_000636.3:c.280_282del	NP_000627.2:p.Gly94del
NM_001024465.2:c.280_282del	NP_001019636.1:p.Gly94del
NM_001024466.2:c.227-3156_227-3154del	NP_001019637.1:n.227-3156_227-3154del
NM_001322814.1:c.227-3156_227-3154del	NP_001309743.1:n.227-3156_227-3154del
NM_001322815.1:c.280_282del	NP_001309744.1:p.Gly94del
NM_001322817.1:c.142_144del	NP_001309746.1:p.Gly48del
NM_001322819.1:c.142_144del	NP_001309748.1:p.Gly48del
NM_001322820.1:c.142_144del	NP_001309749.1:p.Gly48del
NM_000636.4:c.280_282del MANE Select	NP_000627.2:p.Gly94del
NM_001024465.3:c.280_282del	NP_001019636.1:p.Gly94del
NM_001024466.3:c.227-3156_227-3154del	NP_001019637.1:n.227-3156_227-3154del
NM_001322814.2:c.227-3156_227-3154del	NP_001309743.1:n.227-3156_227-3154del
NM_001322815.2:c.280_282del	NP_001309744.1:p.Gly94del
NM_001322817.2:c.142_144del	NP_001309746.1:p.Gly48del
NM_001322819.2:c.142_144del	NP_001309748.1:p.Gly48del
NM_001322820.2:c.142_144del	NP_001309749.1:p.Gly48del