Canonical Allele Identifier: CA1676686080
Gene: SOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159688211_159688212delinsAG , CM000668.2:g.159688211_159688212delinsAG GRCh38
NC_000006.11:g.160109243_160109244delinsAG , CM000668.1:g.160109243_160109244delinsAG GRCh37
NC_000006.10:g.160029233_160029234delinsAG NCBI36
NG_008729.1:g.10110_10111delinsCT
NG_008729.3:g.79318_79319delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.257_258delinsCT MANE Select ENSP00000446252.1:p.Pro86=
ENST00000337404.8:c.227-3179_227-3178delinsCT ENSP00000337127.4:n.227-3179_227-3178delinsCT
ENST00000367054.6:c.227-3179_227-3178delinsCT ENSP00000356021.2:n.227-3179_227-3178delinsCT
ENST00000367055.8:c.257_258delinsCT ENSP00000356022.4:p.Pro86=
ENST00000401980.3:c.89-3179_89-3178delinsCT ENSP00000384196.3:n.89-3179_89-3178delinsCT
ENST00000444946.6:c.257_258delinsCT ENSP00000404804.2:p.Pro86=
ENST00000535459.5:n.137_138delinsCT
ENST00000535561.5:c.326_327delinsCT ENSP00000445015.1:p.Pro109=
ENST00000537657.5:c.119_120delinsCT ENSP00000439191.1:p.Pro40=
ENST00000538183.6:c.257_258delinsCT ENSP00000446252.1:p.Pro86=
ENST00000540491.1:n.246-3179_246-3178delinsCT
ENST00000541573.5:n.150_151delinsCT
ENST00000545162.5:c.326_327delinsCT ENSP00000441362.1:p.Pro109=
ENST00000546087.5:c.119_120delinsCT ENSP00000442920.1:p.Pro40=
ENST00000546260.5:c.387_388delinsCT ENSP00000440131.1:p.Ala129=
NM_000636.2:c.257_258delinsCT NP_000627.2:p.Pro86=
NM_001024465.1:c.257_258delinsCT NP_001019636.1:p.Pro86=
NM_001024466.1:c.227-3179_227-3178delinsCT NP_001019637.1:n.227-3179_227-3178delinsCT
NM_000636.3:c.257_258delinsCT NP_000627.2:p.Pro86=
NM_001024465.2:c.257_258delinsCT NP_001019636.1:p.Pro86=
NM_001024466.2:c.227-3179_227-3178delinsCT NP_001019637.1:n.227-3179_227-3178delinsCT
NM_001322814.1:c.227-3179_227-3178delinsCT NP_001309743.1:n.227-3179_227-3178delinsCT
NM_001322815.1:c.257_258delinsCT NP_001309744.1:p.Pro86=
NM_001322817.1:c.119_120delinsCT NP_001309746.1:p.Pro40=
NM_001322819.1:c.119_120delinsCT NP_001309748.1:p.Pro40=
NM_001322820.1:c.119_120delinsCT NP_001309749.1:p.Pro40=
NM_000636.4:c.257_258delinsCT MANE Select NP_000627.2:p.Pro86=
NM_001024465.3:c.257_258delinsCT NP_001019636.1:p.Pro86=
NM_001024466.3:c.227-3179_227-3178delinsCT NP_001019637.1:n.227-3179_227-3178delinsCT
NM_001322814.2:c.227-3179_227-3178delinsCT NP_001309743.1:n.227-3179_227-3178delinsCT
NM_001322815.2:c.257_258delinsCT NP_001309744.1:p.Pro86=
NM_001322817.2:c.119_120delinsCT NP_001309746.1:p.Pro40=
NM_001322819.2:c.119_120delinsCT NP_001309748.1:p.Pro40=
NM_001322820.2:c.119_120delinsCT NP_001309749.1:p.Pro40=