Canonical Allele Identifier: CA2681024519
Gene: SOD2 HGNC NCBI

Linked Data

gnomAD v4: 6-159677147-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159677147C>T , CM000668.2:g.159677147C>T GRCh38
NC_000006.11:g.160098179C>T , CM000668.1:g.160098179C>T GRCh37
NC_000006.10:g.160018169C>T NCBI36
NG_008729.1:g.21175G>A
NG_008729.3:g.90383G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000538183.7:c.*5346G>A MANE Select ENSP00000446252.1:n.*5346G>A
ENST00000538183.6:c.*5346G>A ENSP00000446252.1:n.*5346G>A
NM_000636.4:c.*5346G>A MANE Select NP_000627.2:n.*5346G>A
NM_001322814.2:c.*5346G>A NP_001309743.1:n.*5346G>A
NM_001322815.2:c.*5346G>A NP_001309744.1:n.*5346G>A
NM_001322819.2:c.*5346G>A NP_001309748.1:n.*5346G>A
NM_001322820.2:c.*5346G>A NP_001309749.1:n.*5346G>A
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