Canonical Allele Identifier: CA2681024479
Gene: SOD2 HGNC NCBI

Linked Data

gnomAD v4: 6-159677017-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159677017A>G , CM000668.2:g.159677017A>G GRCh38
NC_000006.11:g.160098049A>G , CM000668.1:g.160098049A>G GRCh37
NC_000006.10:g.160018039A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000538183.7:c.*5476T>C MANE Select ENSP00000446252.1:n.*5476T>C
ENST00000538183.6:c.*5476T>C ENSP00000446252.1:n.*5476T>C
NM_000636.4:c.*5476T>C MANE Select NP_000627.2:n.*5476T>C
NM_001322814.2:c.*5476T>C NP_001309743.1:n.*5476T>C
NM_001322815.2:c.*5476T>C NP_001309744.1:n.*5476T>C
NM_001322819.2:c.*5476T>C NP_001309748.1:n.*5476T>C
NM_001322820.2:c.*5476T>C NP_001309749.1:n.*5476T>C
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