Canonical Allele Identifier: CA15452571
Gene: SOD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159679270A>G , CM000668.2:g.159679270A>G GRCh38
NC_000006.11:g.160100302A>G , CM000668.1:g.160100302A>G GRCh37
NC_000006.10:g.160020292A>G NCBI36
NG_008729.1:g.19052T>C
NG_008729.3:g.88260T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.*3223T>C MANE Select ENSP00000446252.1:n.*3223T>C
ENST00000367054.6:c.*48T>C ENSP00000356021.2:n.*48T>C
ENST00000367055.8:c.*48T>C ENSP00000356022.4:n.*48T>C
ENST00000538183.6:c.*3223T>C ENSP00000446252.1:n.*3223T>C
ENST00000546087.5:c.*48T>C ENSP00000442920.1:n.*48T>C
ENST00000546260.5:c.*3596T>C ENSP00000440131.1:n.*3596T>C
NM_001024465.1:c.*48T>C NP_001019636.1:n.*48T>C
NM_001024466.1:c.*48T>C NP_001019637.1:n.*48T>C
NM_000636.3:c.*3223T>C NP_000627.2:n.*3223T>C
NM_001024465.2:c.*48T>C NP_001019636.1:n.*48T>C
NM_001024466.2:c.*48T>C NP_001019637.1:n.*48T>C
NM_001322814.1:c.*3223T>C NP_001309743.1:n.*3223T>C
NM_001322815.1:c.*3223T>C NP_001309744.1:n.*3223T>C
NM_001322817.1:c.*48T>C NP_001309746.1:n.*48T>C
NM_001322819.1:c.*3223T>C NP_001309748.1:n.*3223T>C
NM_001322820.1:c.*3223T>C NP_001309749.1:n.*3223T>C
NM_000636.4:c.*3223T>C MANE Select NP_000627.2:n.*3223T>C
NM_001024465.3:c.*48T>C NP_001019636.1:n.*48T>C
NM_001024466.3:c.*48T>C NP_001019637.1:n.*48T>C
NM_001322814.2:c.*3223T>C NP_001309743.1:n.*3223T>C
NM_001322815.2:c.*3223T>C NP_001309744.1:n.*3223T>C
NM_001322817.2:c.*48T>C NP_001309746.1:n.*48T>C
NM_001322819.2:c.*3223T>C NP_001309748.1:n.*3223T>C
NM_001322820.2:c.*3223T>C NP_001309749.1:n.*3223T>C
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