Canonical Allele Identifier: CA571507941
Gene: SOD2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.159693279G>T
GRCh37 chr6:g.160114311G>T
gnomAD v2:
6:160114311 G / T
gnomAD v3:
6:159693279 G / T
gnomAD v4:
chr6-159693279-G-T
Joint Max Group AF 0.00001104 (EAS)
Genomes Max Group AF 0.00007053 (EAS)
Exomes Max Group AF 0.00000966 (NFE)
dbSNP:
5746092
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159693279G>T , CM000668.2:g.159693279G>T GRCh38
NC_000006.11:g.160114311G>T , CM000668.1:g.160114311G>T GRCh37
NC_000006.10:g.160034301G>T NCBI36
NG_008729.1:g.5043C>A
NG_008729.3:g.74251C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000401980.3:c.-115-416C>A ENSP00000384196.3:n.-115-416C>A
ENST00000535561.5:c.93-416C>A ENSP00000445015.1:n.93-416C>A
ENST00000537657.5:c.-115-416C>A ENSP00000439191.1:n.-115-416C>A
ENST00000538183.6:c.-112C>A ENSP00000446252.1:n.-112C>A
ENST00000545162.5:c.93-416C>A ENSP00000441362.1:n.93-416C>A
ENST00000546087.5:c.-115-416C>A ENSP00000442920.1:n.-115-416C>A
NM_000636.2:c.-112C>A NP_000627.2:n.-112C>A
NM_001024465.1:c.-112C>A NP_001019636.1:n.-112C>A
NM_001024466.1:c.-112C>A NP_001019637.1:n.-112C>A
NM_000636.3:c.-112C>A NP_000627.2:n.-112C>A
NM_001024465.2:c.-112C>A NP_001019636.1:n.-112C>A
NM_001024466.2:c.-112C>A NP_001019637.1:n.-112C>A
NM_001322814.1:c.-112C>A NP_001309743.1:n.-112C>A
NM_001322815.1:c.-112C>A NP_001309744.1:n.-112C>A
NM_001322816.1:c.-112C>A NP_001309745.1:n.-112C>A
NM_001322817.1:c.-115-416C>A NP_001309746.1:n.-115-416C>A
NM_001322819.1:c.-115-416C>A NP_001309748.1:n.-115-416C>A
NM_001322820.1:c.-115-416C>A NP_001309749.1:n.-115-416C>A
NM_001322817.2:c.-115-416C>A NP_001309746.1:n.-115-416C>A
NM_001322819.2:c.-115-416C>A NP_001309748.1:n.-115-416C>A
NM_001322820.2:c.-115-416C>A NP_001309749.1:n.-115-416C>A
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