Canonical Allele Identifier: CA1676685997
Gene: SOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159688026_159688027delinsCA , CM000668.2:g.159688026_159688027delinsCA GRCh38
NC_000006.11:g.160109058_160109059delinsCA , CM000668.1:g.160109058_160109059delinsCA GRCh37
NC_000006.10:g.160029048_160029049delinsCA NCBI36
NG_008729.1:g.10295_10296delinsTG
NG_008729.3:g.79503_79504delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.343+99_343+100delinsTG MANE Select ENSP00000446252.1:n.343+99_343+100delinsTG
ENST00000337404.8:c.227-2994_227-2993delinsTG ENSP00000337127.4:n.227-2994_227-2993delinsTG
ENST00000367054.6:c.227-2994_227-2993delinsTG ENSP00000356021.2:n.227-2994_227-2993delinsTG
ENST00000367055.8:c.343+99_343+100delinsTG ENSP00000356022.4:n.343+99_343+100delinsTG
ENST00000401980.3:c.89-2994_89-2993delinsTG ENSP00000384196.3:n.89-2994_89-2993delinsTG
ENST00000444946.6:c.343+99_343+100delinsTG ENSP00000404804.2:n.343+99_343+100delinsTG
ENST00000535459.5:n.223+99_223+100delinsTG
ENST00000535561.5:c.412+99_412+100delinsTG ENSP00000445015.1:n.412+99_412+100delinsTG
ENST00000537657.5:c.205+99_205+100delinsTG ENSP00000439191.1:n.205+99_205+100delinsTG
ENST00000538183.6:c.343+99_343+100delinsTG ENSP00000446252.1:n.343+99_343+100delinsTG
ENST00000540491.1:n.246-2994_246-2993delinsTG
ENST00000541573.5:n.236+99_236+100delinsTG
ENST00000545162.5:c.412+99_412+100delinsTG ENSP00000441362.1:n.412+99_412+100delinsTG
ENST00000546087.5:c.205+99_205+100delinsTG ENSP00000442920.1:n.205+99_205+100delinsTG
ENST00000546260.5:c.*47+99_*47+100delinsTG ENSP00000440131.1:n.*47+99_*47+100delinsTG
NM_000636.2:c.343+99_343+100delinsTG NP_000627.2:n.343+99_343+100delinsTG
NM_001024465.1:c.343+99_343+100delinsTG NP_001019636.1:n.343+99_343+100delinsTG
NM_001024466.1:c.227-2994_227-2993delinsTG NP_001019637.1:n.227-2994_227-2993delinsTG
NM_000636.3:c.343+99_343+100delinsTG NP_000627.2:n.343+99_343+100delinsTG
NM_001024465.2:c.343+99_343+100delinsTG NP_001019636.1:n.343+99_343+100delinsTG
NM_001024466.2:c.227-2994_227-2993delinsTG NP_001019637.1:n.227-2994_227-2993delinsTG
NM_001322814.1:c.227-2994_227-2993delinsTG NP_001309743.1:n.227-2994_227-2993delinsTG
NM_001322815.1:c.343+99_343+100delinsTG NP_001309744.1:n.343+99_343+100delinsTG
NM_001322817.1:c.205+99_205+100delinsTG NP_001309746.1:n.205+99_205+100delinsTG
NM_001322819.1:c.205+99_205+100delinsTG NP_001309748.1:n.205+99_205+100delinsTG
NM_001322820.1:c.205+99_205+100delinsTG NP_001309749.1:n.205+99_205+100delinsTG
NM_000636.4:c.343+99_343+100delinsTG MANE Select NP_000627.2:n.343+99_343+100delinsTG
NM_001024465.3:c.343+99_343+100delinsTG NP_001019636.1:n.343+99_343+100delinsTG
NM_001024466.3:c.227-2994_227-2993delinsTG NP_001019637.1:n.227-2994_227-2993delinsTG
NM_001322814.2:c.227-2994_227-2993delinsTG NP_001309743.1:n.227-2994_227-2993delinsTG
NM_001322815.2:c.343+99_343+100delinsTG NP_001309744.1:n.343+99_343+100delinsTG
NM_001322817.2:c.205+99_205+100delinsTG NP_001309746.1:n.205+99_205+100delinsTG
NM_001322819.2:c.205+99_205+100delinsTG NP_001309748.1:n.205+99_205+100delinsTG
NM_001322820.2:c.205+99_205+100delinsTG NP_001309749.1:n.205+99_205+100delinsTG