Canonical Allele Identifier: CA1676685988
Gene: SOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159688017_159688020delinsAAAC , CM000668.2:g.159688017_159688020delinsAAAC GRCh38
NC_000006.11:g.160109049_160109052delinsAAAC , CM000668.1:g.160109049_160109052delinsAAAC GRCh37
NC_000006.10:g.160029039_160029042delinsAAAC NCBI36
NG_008729.1:g.10302_10305delinsGTTT
NG_008729.3:g.79510_79513delinsGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.343+106_343+109delinsGTTT MANE Select ENSP00000446252.1:n.343+106_343+109delinsGTTT
ENST00000337404.8:c.227-2987_227-2984delinsGTTT ENSP00000337127.4:n.227-2987_227-2984delinsGTTT
ENST00000367054.6:c.227-2987_227-2984delinsGTTT ENSP00000356021.2:n.227-2987_227-2984delinsGTTT
ENST00000367055.8:c.343+106_343+109delinsGTTT ENSP00000356022.4:n.343+106_343+109delinsGTTT
ENST00000401980.3:c.89-2987_89-2984delinsGTTT ENSP00000384196.3:n.89-2987_89-2984delinsGTTT
ENST00000444946.6:c.343+106_343+109delinsGTTT ENSP00000404804.2:n.343+106_343+109delinsGTTT
ENST00000535459.5:n.223+106_223+109delinsGTTT
ENST00000535561.5:c.412+106_412+109delinsGTTT ENSP00000445015.1:n.412+106_412+109delinsGTTT
ENST00000537657.5:c.205+106_205+109delinsGTTT ENSP00000439191.1:n.205+106_205+109delinsGTTT
ENST00000538183.6:c.343+106_343+109delinsGTTT ENSP00000446252.1:n.343+106_343+109delinsGTTT
ENST00000540491.1:n.246-2987_246-2984delinsGTTT
ENST00000541573.5:n.236+106_236+109delinsGTTT
ENST00000545162.5:c.412+106_412+109delinsGTTT ENSP00000441362.1:n.412+106_412+109delinsGTTT
ENST00000546087.5:c.205+106_205+109delinsGTTT ENSP00000442920.1:n.205+106_205+109delinsGTTT
ENST00000546260.5:c.*47+106_*47+109delinsGTTT ENSP00000440131.1:n.*47+106_*47+109delinsGTTT
NM_000636.2:c.343+106_343+109delinsGTTT NP_000627.2:n.343+106_343+109delinsGTTT
NM_001024465.1:c.343+106_343+109delinsGTTT NP_001019636.1:n.343+106_343+109delinsGTTT
NM_001024466.1:c.227-2987_227-2984delinsGTTT NP_001019637.1:n.227-2987_227-2984delinsGTTT
NM_000636.3:c.343+106_343+109delinsGTTT NP_000627.2:n.343+106_343+109delinsGTTT
NM_001024465.2:c.343+106_343+109delinsGTTT NP_001019636.1:n.343+106_343+109delinsGTTT
NM_001024466.2:c.227-2987_227-2984delinsGTTT NP_001019637.1:n.227-2987_227-2984delinsGTTT
NM_001322814.1:c.227-2987_227-2984delinsGTTT NP_001309743.1:n.227-2987_227-2984delinsGTTT
NM_001322815.1:c.343+106_343+109delinsGTTT NP_001309744.1:n.343+106_343+109delinsGTTT
NM_001322817.1:c.205+106_205+109delinsGTTT NP_001309746.1:n.205+106_205+109delinsGTTT
NM_001322819.1:c.205+106_205+109delinsGTTT NP_001309748.1:n.205+106_205+109delinsGTTT
NM_001322820.1:c.205+106_205+109delinsGTTT NP_001309749.1:n.205+106_205+109delinsGTTT
NM_000636.4:c.343+106_343+109delinsGTTT MANE Select NP_000627.2:n.343+106_343+109delinsGTTT
NM_001024465.3:c.343+106_343+109delinsGTTT NP_001019636.1:n.343+106_343+109delinsGTTT
NM_001024466.3:c.227-2987_227-2984delinsGTTT NP_001019637.1:n.227-2987_227-2984delinsGTTT
NM_001322814.2:c.227-2987_227-2984delinsGTTT NP_001309743.1:n.227-2987_227-2984delinsGTTT
NM_001322815.2:c.343+106_343+109delinsGTTT NP_001309744.1:n.343+106_343+109delinsGTTT
NM_001322817.2:c.205+106_205+109delinsGTTT NP_001309746.1:n.205+106_205+109delinsGTTT
NM_001322819.2:c.205+106_205+109delinsGTTT NP_001309748.1:n.205+106_205+109delinsGTTT
NM_001322820.2:c.205+106_205+109delinsGTTT NP_001309749.1:n.205+106_205+109delinsGTTT