Canonical Allele Identifier: CA366294089

Gene: SOD2

Linked Data

• dbSNP Id: rs1218372774
• gnomAD v3: 6-159688222-C-T
• gnomAD v4: 6-159688222-C-T
• MyVariant Identifiers: chr6:g.160109254C>T (hg19) ; chr6:g.159688222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159688222C>T , CM000668.2:g.159688222C>T	GRCh38
NC_000006.11:g.160109254C>T , CM000668.1:g.160109254C>T	GRCh37
NC_000006.10:g.160029244C>T	NCBI36
NG_008729.1:g.10100G>A
NG_008729.3:g.79308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.247G>A MANE Select	ENSP00000446252.1:p.Ala83Thr
ENST00000337404.8:c.227-3189G>A	ENSP00000337127.4:n.227-3189G>A
ENST00000367054.6:c.227-3189G>A	ENSP00000356021.2:n.227-3189G>A
ENST00000367055.8:c.247G>A	ENSP00000356022.4:p.Ala83Thr
ENST00000401980.3:c.89-3189G>A	ENSP00000384196.3:n.89-3189G>A
ENST00000444946.6:c.247G>A	ENSP00000404804.2:p.Ala83Thr
ENST00000535459.5:n.127G>A
ENST00000535561.5:c.316G>A	ENSP00000445015.1:p.Ala106Thr
ENST00000537657.5:c.109G>A	ENSP00000439191.1:p.Ala37Thr
ENST00000538183.6:c.247G>A	ENSP00000446252.1:p.Ala83Thr
ENST00000540491.1:n.246-3189G>A
ENST00000541573.5:n.140G>A
ENST00000545162.5:c.316G>A	ENSP00000441362.1:p.Ala106Thr
ENST00000546087.5:c.109G>A	ENSP00000442920.1:p.Ala37Thr
ENST00000546260.5:c.377G>A	ENSP00000440131.1:p.Ser126Asn
NM_000636.2:c.247G>A	NP_000627.2:p.Ala83Thr
NM_001024465.1:c.247G>A	NP_001019636.1:p.Ala83Thr
NM_001024466.1:c.227-3189G>A	NP_001019637.1:n.227-3189G>A
NM_000636.3:c.247G>A	NP_000627.2:p.Ala83Thr
NM_001024465.2:c.247G>A	NP_001019636.1:p.Ala83Thr
NM_001024466.2:c.227-3189G>A	NP_001019637.1:n.227-3189G>A
NM_001322814.1:c.227-3189G>A	NP_001309743.1:n.227-3189G>A
NM_001322815.1:c.247G>A	NP_001309744.1:p.Ala83Thr
NM_001322817.1:c.109G>A	NP_001309746.1:p.Ala37Thr
NM_001322819.1:c.109G>A	NP_001309748.1:p.Ala37Thr
NM_001322820.1:c.109G>A	NP_001309749.1:p.Ala37Thr
NM_000636.4:c.247G>A MANE Select	NP_000627.2:p.Ala83Thr
NM_001024465.3:c.247G>A	NP_001019636.1:p.Ala83Thr
NM_001024466.3:c.227-3189G>A	NP_001019637.1:n.227-3189G>A
NM_001322814.2:c.227-3189G>A	NP_001309743.1:n.227-3189G>A
NM_001322815.2:c.247G>A	NP_001309744.1:p.Ala83Thr
NM_001322817.2:c.109G>A	NP_001309746.1:p.Ala37Thr
NM_001322819.2:c.109G>A	NP_001309748.1:p.Ala37Thr
NM_001322820.2:c.109G>A	NP_001309749.1:p.Ala37Thr