Canonical Allele Identifier: CA1676683377
Gene: SOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159682052C>A , CM000668.2:g.159682052C>A GRCh38
NC_000006.11:g.160103084C>A , CM000668.1:g.160103084C>A GRCh37
NC_000006.10:g.160023074C>A NCBI36
NG_008729.1:g.16270G>T
NG_008729.3:g.85478G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.*441G>T MANE Select ENSP00000446252.1:n.*441G>T
ENST00000367054.6:c.*19+422G>T ENSP00000356021.2:n.*19+422G>T
ENST00000367055.8:c.*19+422G>T ENSP00000356022.4:n.*19+422G>T
ENST00000538183.6:c.*441G>T ENSP00000446252.1:n.*441G>T
ENST00000546087.5:c.*19+422G>T ENSP00000442920.1:n.*19+422G>T
ENST00000546260.5:c.*814G>T ENSP00000440131.1:n.*814G>T
NM_000636.2:c.*441G>T NP_000627.2:n.*441G>T
NM_001024465.1:c.*19+422G>T NP_001019636.1:n.*19+422G>T
NM_001024466.1:c.*19+422G>T NP_001019637.1:n.*19+422G>T
NM_000636.3:c.*441G>T NP_000627.2:n.*441G>T
NM_001024465.2:c.*19+422G>T NP_001019636.1:n.*19+422G>T
NM_001024466.2:c.*19+422G>T NP_001019637.1:n.*19+422G>T
NM_001322814.1:c.*441G>T NP_001309743.1:n.*441G>T
NM_001322815.1:c.*441G>T NP_001309744.1:n.*441G>T
NM_001322817.1:c.*19+422G>T NP_001309746.1:n.*19+422G>T
NM_001322819.1:c.*441G>T NP_001309748.1:n.*441G>T
NM_001322820.1:c.*441G>T NP_001309749.1:n.*441G>T
NM_000636.4:c.*441G>T MANE Select NP_000627.2:n.*441G>T
NM_001024465.3:c.*19+422G>T NP_001019636.1:n.*19+422G>T
NM_001024466.3:c.*19+422G>T NP_001019637.1:n.*19+422G>T
NM_001322814.2:c.*441G>T NP_001309743.1:n.*441G>T
NM_001322815.2:c.*441G>T NP_001309744.1:n.*441G>T
NM_001322817.2:c.*19+422G>T NP_001309746.1:n.*19+422G>T
NM_001322819.2:c.*441G>T NP_001309748.1:n.*441G>T
NM_001322820.2:c.*441G>T NP_001309749.1:n.*441G>T