Canonical Allele Identifier: CA366294117

Gene: SOD2

Linked Data

• dbSNP Id: rs1157732337
• gnomAD v2: 6-160109262-G-T
• gnomAD v4: 6-159688230-G-T
• MyVariant Identifiers: chr6:g.160109262G>T (hg19) ; chr6:g.159688230G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159688230G>T , CM000668.2:g.159688230G>T	GRCh38
NC_000006.11:g.160109262G>T , CM000668.1:g.160109262G>T	GRCh37
NC_000006.10:g.160029252G>T	NCBI36
NG_008729.1:g.10092C>A
NG_008729.3:g.79300C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.239C>A MANE Select	ENSP00000446252.1:p.Ala80Asp
ENST00000337404.8:c.227-3197C>A	ENSP00000337127.4:n.227-3197C>A
ENST00000367054.6:c.227-3197C>A	ENSP00000356021.2:n.227-3197C>A
ENST00000367055.8:c.239C>A	ENSP00000356022.4:p.Ala80Asp
ENST00000401980.3:c.89-3197C>A	ENSP00000384196.3:n.89-3197C>A
ENST00000444946.6:c.239C>A	ENSP00000404804.2:p.Ala80Asp
ENST00000535459.5:n.119C>A
ENST00000535561.5:c.308C>A	ENSP00000445015.1:p.Ala103Asp
ENST00000537657.5:c.101C>A	ENSP00000439191.1:p.Ala34Asp
ENST00000538183.6:c.239C>A	ENSP00000446252.1:p.Ala80Asp
ENST00000540491.1:n.246-3197C>A
ENST00000541573.5:n.132C>A
ENST00000545162.5:c.308C>A	ENSP00000441362.1:p.Ala103Asp
ENST00000546087.5:c.101C>A	ENSP00000442920.1:p.Ala34Asp
ENST00000546260.5:c.369C>A	ENSP00000440131.1:p.Ser123Arg
NM_000636.2:c.239C>A	NP_000627.2:p.Ala80Asp
NM_001024465.1:c.239C>A	NP_001019636.1:p.Ala80Asp
NM_001024466.1:c.227-3197C>A	NP_001019637.1:n.227-3197C>A
NM_000636.3:c.239C>A	NP_000627.2:p.Ala80Asp
NM_001024465.2:c.239C>A	NP_001019636.1:p.Ala80Asp
NM_001024466.2:c.227-3197C>A	NP_001019637.1:n.227-3197C>A
NM_001322814.1:c.227-3197C>A	NP_001309743.1:n.227-3197C>A
NM_001322815.1:c.239C>A	NP_001309744.1:p.Ala80Asp
NM_001322817.1:c.101C>A	NP_001309746.1:p.Ala34Asp
NM_001322819.1:c.101C>A	NP_001309748.1:p.Ala34Asp
NM_001322820.1:c.101C>A	NP_001309749.1:p.Ala34Asp
NM_000636.4:c.239C>A MANE Select	NP_000627.2:p.Ala80Asp
NM_001024465.3:c.239C>A	NP_001019636.1:p.Ala80Asp
NM_001024466.3:c.227-3197C>A	NP_001019637.1:n.227-3197C>A
NM_001322814.2:c.227-3197C>A	NP_001309743.1:n.227-3197C>A
NM_001322815.2:c.239C>A	NP_001309744.1:p.Ala80Asp
NM_001322817.2:c.101C>A	NP_001309746.1:p.Ala34Asp
NM_001322819.2:c.101C>A	NP_001309748.1:p.Ala34Asp
NM_001322820.2:c.101C>A	NP_001309749.1:p.Ala34Asp