Canonical Allele Identifier: CA1096469673
Gene: SOD2 HGNC NCBI

Linked Data

dbSNP Id: rs1779794791
gnomAD v3: 6-159677019-C-T
gnomAD v4: 6-159677019-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159677019C>T , CM000668.2:g.159677019C>T GRCh38
NC_000006.11:g.160098051C>T , CM000668.1:g.160098051C>T GRCh37
NC_000006.10:g.160018041C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.*5474G>A MANE Select ENSP00000446252.1:n.*5474G>A
ENST00000538183.6:c.*5474G>A ENSP00000446252.1:n.*5474G>A
NM_000636.4:c.*5474G>A MANE Select NP_000627.2:n.*5474G>A
NM_001322814.2:c.*5474G>A NP_001309743.1:n.*5474G>A
NM_001322815.2:c.*5474G>A NP_001309744.1:n.*5474G>A
NM_001322819.2:c.*5474G>A NP_001309748.1:n.*5474G>A
NM_001322820.2:c.*5474G>A NP_001309749.1:n.*5474G>A
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