Canonical Allele Identifier: CA12380577

Gene: SOD2

Linked Data

• dbSNP Id: rs5746136
• gnomAD v2: 6-160103084-C-T
• gnomAD v3: 6-159682052-C-T
• gnomAD v4: 6-159682052-C-T
• MyVariant Identifiers: chr6:g.160103084C>T (hg19) ; chr6:g.159682052C>T (hg38)

Genomic Alleles

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

Transcript Alleles

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