Canonical Allele Identifier: CA821551481
Gene: SOD2 HGNC NCBI

Linked Data

dbSNP Id: rs1156976339
gnomAD v3: 6-159677065-TAA-T
gnomAD v4: 6-159677065-TAA-T
MyVariant Identifiers: chr6:g.160098098_160098099del (hg19) chr6:g.159677066_159677067del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159677066_159677067del , CM000668.2:g.159677066_159677067del GRCh38
NC_000006.11:g.160098098_160098099del , CM000668.1:g.160098098_160098099del GRCh37
NC_000006.10:g.160018088_160018089del NCBI36
NG_008729.3:g.90463_90464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.*5426_*5427del MANE Select ENSP00000446252.1:n.*5426_*5427del
ENST00000538183.6:c.*5426_*5427del ENSP00000446252.1:n.*5426_*5427del
NM_000636.4:c.*5426_*5427del MANE Select NP_000627.2:n.*5426_*5427del
NM_001322814.2:c.*5426_*5427del NP_001309743.1:n.*5426_*5427del
NM_001322815.2:c.*5426_*5427del NP_001309744.1:n.*5426_*5427del
NM_001322819.2:c.*5426_*5427del NP_001309748.1:n.*5426_*5427del
NM_001322820.2:c.*5426_*5427del NP_001309749.1:n.*5426_*5427del
Search 100 bp 5'
Search 100 bp 3'