Canonical Allele Identifier: CA1676686015
Gene: SOD2 HGNC NCBI

Linked Data

dbSNP Id: rs1780273836

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159688049A>G , CM000668.2:g.159688049A>G GRCh38
NC_000006.11:g.160109081A>G , CM000668.1:g.160109081A>G GRCh37
NC_000006.10:g.160029071A>G NCBI36
NG_008729.1:g.10273T>C
NG_008729.3:g.79481T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.343+77T>C MANE Select ENSP00000446252.1:n.343+77T>C
ENST00000337404.8:c.227-3016T>C ENSP00000337127.4:n.227-3016T>C
ENST00000367054.6:c.227-3016T>C ENSP00000356021.2:n.227-3016T>C
ENST00000367055.8:c.343+77T>C ENSP00000356022.4:n.343+77T>C
ENST00000401980.3:c.89-3016T>C ENSP00000384196.3:n.89-3016T>C
ENST00000444946.6:c.343+77T>C ENSP00000404804.2:n.343+77T>C
ENST00000535459.5:n.223+77T>C
ENST00000535561.5:c.412+77T>C ENSP00000445015.1:n.412+77T>C
ENST00000537657.5:c.205+77T>C ENSP00000439191.1:n.205+77T>C
ENST00000538183.6:c.343+77T>C ENSP00000446252.1:n.343+77T>C
ENST00000540491.1:n.246-3016T>C
ENST00000541573.5:n.236+77T>C
ENST00000545162.5:c.412+77T>C ENSP00000441362.1:n.412+77T>C
ENST00000546087.5:c.205+77T>C ENSP00000442920.1:n.205+77T>C
ENST00000546260.5:c.*47+77T>C ENSP00000440131.1:n.*47+77T>C
NM_000636.2:c.343+77T>C NP_000627.2:n.343+77T>C
NM_001024465.1:c.343+77T>C NP_001019636.1:n.343+77T>C
NM_001024466.1:c.227-3016T>C NP_001019637.1:n.227-3016T>C
NM_000636.3:c.343+77T>C NP_000627.2:n.343+77T>C
NM_001024465.2:c.343+77T>C NP_001019636.1:n.343+77T>C
NM_001024466.2:c.227-3016T>C NP_001019637.1:n.227-3016T>C
NM_001322814.1:c.227-3016T>C NP_001309743.1:n.227-3016T>C
NM_001322815.1:c.343+77T>C NP_001309744.1:n.343+77T>C
NM_001322817.1:c.205+77T>C NP_001309746.1:n.205+77T>C
NM_001322819.1:c.205+77T>C NP_001309748.1:n.205+77T>C
NM_001322820.1:c.205+77T>C NP_001309749.1:n.205+77T>C
NM_000636.4:c.343+77T>C MANE Select NP_000627.2:n.343+77T>C
NM_001024465.3:c.343+77T>C NP_001019636.1:n.343+77T>C
NM_001024466.3:c.227-3016T>C NP_001019637.1:n.227-3016T>C
NM_001322814.2:c.227-3016T>C NP_001309743.1:n.227-3016T>C
NM_001322815.2:c.343+77T>C NP_001309744.1:n.343+77T>C
NM_001322817.2:c.205+77T>C NP_001309746.1:n.205+77T>C
NM_001322819.2:c.205+77T>C NP_001309748.1:n.205+77T>C
NM_001322820.2:c.205+77T>C NP_001309749.1:n.205+77T>C