Canonical Allele Identifier: CA366294089
Gene: SOD2 HGNC NCBI

Linked Data

dbSNP Id: rs1218372774

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159688222C>T , CM000668.2:g.159688222C>T GRCh38
NC_000006.11:g.160109254C>T , CM000668.1:g.160109254C>T GRCh37
NC_000006.10:g.160029244C>T NCBI36
NG_008729.1:g.10100G>A
NG_008729.3:g.79308G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.247G>A MANE Select ENSP00000446252.1:p.Ala83Thr
ENST00000337404.8:c.227-3189G>A ENSP00000337127.4:n.227-3189G>A
ENST00000367054.6:c.227-3189G>A ENSP00000356021.2:n.227-3189G>A
ENST00000367055.8:c.247G>A ENSP00000356022.4:p.Ala83Thr
ENST00000401980.3:c.89-3189G>A ENSP00000384196.3:n.89-3189G>A
ENST00000444946.6:c.247G>A ENSP00000404804.2:p.Ala83Thr
ENST00000535459.5:n.127G>A
ENST00000535561.5:c.316G>A ENSP00000445015.1:p.Ala106Thr
ENST00000537657.5:c.109G>A ENSP00000439191.1:p.Ala37Thr
ENST00000538183.6:c.247G>A ENSP00000446252.1:p.Ala83Thr
ENST00000540491.1:n.246-3189G>A
ENST00000541573.5:n.140G>A
ENST00000545162.5:c.316G>A ENSP00000441362.1:p.Ala106Thr
ENST00000546087.5:c.109G>A ENSP00000442920.1:p.Ala37Thr
ENST00000546260.5:c.377G>A ENSP00000440131.1:p.Ser126Asn
NM_000636.2:c.247G>A NP_000627.2:p.Ala83Thr
NM_001024465.1:c.247G>A NP_001019636.1:p.Ala83Thr
NM_001024466.1:c.227-3189G>A NP_001019637.1:n.227-3189G>A
NM_000636.3:c.247G>A NP_000627.2:p.Ala83Thr
NM_001024465.2:c.247G>A NP_001019636.1:p.Ala83Thr
NM_001024466.2:c.227-3189G>A NP_001019637.1:n.227-3189G>A
NM_001322814.1:c.227-3189G>A NP_001309743.1:n.227-3189G>A
NM_001322815.1:c.247G>A NP_001309744.1:p.Ala83Thr
NM_001322817.1:c.109G>A NP_001309746.1:p.Ala37Thr
NM_001322819.1:c.109G>A NP_001309748.1:p.Ala37Thr
NM_001322820.1:c.109G>A NP_001309749.1:p.Ala37Thr
NM_000636.4:c.247G>A MANE Select NP_000627.2:p.Ala83Thr
NM_001024465.3:c.247G>A NP_001019636.1:p.Ala83Thr
NM_001024466.3:c.227-3189G>A NP_001019637.1:n.227-3189G>A
NM_001322814.2:c.227-3189G>A NP_001309743.1:n.227-3189G>A
NM_001322815.2:c.247G>A NP_001309744.1:p.Ala83Thr
NM_001322817.2:c.109G>A NP_001309746.1:p.Ala37Thr
NM_001322819.2:c.109G>A NP_001309748.1:p.Ala37Thr
NM_001322820.2:c.109G>A NP_001309749.1:p.Ala37Thr