Canonical Allele Identifier: CA2567159140

Gene: SOD2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159692753_159692754insCTG , CM000668.2:g.159692753_159692754insCTG	GRCh38
NC_000006.11:g.160113785_160113786insCTG , CM000668.1:g.160113785_160113786insCTG	GRCh37
NC_000006.10:g.160033775_160033776insCTG	NCBI36
NG_008729.1:g.5568_5569insCAG
NG_008729.3:g.74776_74777insCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.133_134insCAG MANE Select	ENSP00000446252.1:p.Gln45delinsProGlu
ENST00000337404.8:c.133_134insCAG	ENSP00000337127.4:p.Gln45delinsProGlu
ENST00000367054.6:c.133_134insCAG	ENSP00000356021.2:p.Gln45delinsProGlu
ENST00000367055.8:c.133_134insCAG	ENSP00000356022.4:p.Gln45delinsProGlu
ENST00000401980.3:c.-6_-5insCAG	ENSP00000384196.3:n.-6_-5insCAG
ENST00000444946.6:c.133_134insCAG	ENSP00000404804.2:p.Gln45delinsProGlu
ENST00000452684.2:c.133_134insCAG	ENSP00000406713.2:p.Gln45delinsProGlu
ENST00000535561.5:c.202_203insCAG	ENSP00000445015.1:p.Gln68delinsProGlu
ENST00000537657.5:c.-6_-5insCAG	ENSP00000439191.1:n.-6_-5insCAG
ENST00000538183.6:c.133_134insCAG	ENSP00000446252.1:p.Gln45delinsProGlu
ENST00000545162.5:c.202_203insCAG	ENSP00000441362.1:p.Gln68delinsProGlu
ENST00000546087.5:c.-6_-5insCAG	ENSP00000442920.1:n.-6_-5insCAG
ENST00000546260.5:c.133_134insCAG	ENSP00000440131.1:p.Gln45delinsProGlu
NM_000636.2:c.133_134insCAG	NP_000627.2:p.Gln45delinsProGlu
NM_001024465.1:c.133_134insCAG	NP_001019636.1:p.Gln45delinsProGlu
NM_001024466.1:c.133_134insCAG	NP_001019637.1:p.Gln45delinsProGlu
NM_000636.3:c.133_134insCAG	NP_000627.2:p.Gln45delinsProGlu
NM_001024465.2:c.133_134insCAG	NP_001019636.1:p.Gln45delinsProGlu
NM_001024466.2:c.133_134insCAG	NP_001019637.1:p.Gln45delinsProGlu
NM_001322814.1:c.133_134insCAG	NP_001309743.1:p.Gln45delinsProGlu
NM_001322815.1:c.133_134insCAG	NP_001309744.1:p.Gln45delinsProGlu
NM_001322816.1:c.133_134insCAG	NP_001309745.1:p.Gln45delinsProGlu
NM_001322817.1:c.-6_-5insCAG	NP_001309746.1:n.-6_-5insCAG
NM_001322819.1:c.-6_-5insCAG	NP_001309748.1:n.-6_-5insCAG
NM_001322820.1:c.-6_-5insCAG	NP_001309749.1:n.-6_-5insCAG
NM_000636.4:c.133_134insCAG MANE Select	NP_000627.2:p.Gln45delinsProGlu
NM_001024465.3:c.133_134insCAG	NP_001019636.1:p.Gln45delinsProGlu
NM_001024466.3:c.133_134insCAG	NP_001019637.1:p.Gln45delinsProGlu
NM_001322814.2:c.133_134insCAG	NP_001309743.1:p.Gln45delinsProGlu
NM_001322815.2:c.133_134insCAG	NP_001309744.1:p.Gln45delinsProGlu
NM_001322817.2:c.-6_-5insCAG	NP_001309746.1:n.-6_-5insCAG
NM_001322819.2:c.-6_-5insCAG	NP_001309748.1:n.-6_-5insCAG
NM_001322820.2:c.-6_-5insCAG	NP_001309749.1:n.-6_-5insCAG
NM_001322816.2:c.133_134insCAG	NP_001309745.1:p.Gln45delinsProGlu