Canonical Allele Identifier: CA452863150

Gene: SOD2

Linked Data

• dbSNP Id: rs1213706539
• COSMIC: COSM4768165
• MyVariant Identifiers: chr6:g.160109213G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159688181G>A , CM000668.2:g.159688181G>A	GRCh38
NC_000006.11:g.160109213G>A , CM000668.1:g.160109213G>A	GRCh37
NC_000006.10:g.160029203G>A	NCBI36
NG_008729.1:g.10141C>T
NG_008729.3:g.79349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.288C>T MANE Select	ENSP00000446252.1:p.Ile96=
ENST00000337404.8:c.227-3148C>T	ENSP00000337127.4:n.227-3148C>T
ENST00000367054.6:c.227-3148C>T	ENSP00000356021.2:n.227-3148C>T
ENST00000367055.8:c.288C>T	ENSP00000356022.4:p.Ile96=
ENST00000401980.3:c.89-3148C>T	ENSP00000384196.3:n.89-3148C>T
ENST00000444946.6:c.288C>T	ENSP00000404804.2:p.Ile96=
ENST00000535459.5:n.168C>T
ENST00000535561.5:c.357C>T	ENSP00000445015.1:p.Ile119=
ENST00000537657.5:c.150C>T	ENSP00000439191.1:p.Ile50=
ENST00000538183.6:c.288C>T	ENSP00000446252.1:p.Ile96=
ENST00000540491.1:n.246-3148C>T
ENST00000541573.5:n.181C>T
ENST00000545162.5:c.357C>T	ENSP00000441362.1:p.Ile119=
ENST00000546087.5:c.150C>T	ENSP00000442920.1:p.Ile50=
ENST00000546260.5:c.418C>T	ENSP00000440131.1:p.Gln140Ter
NM_000636.2:c.288C>T	NP_000627.2:p.Ile96=
NM_001024465.1:c.288C>T	NP_001019636.1:p.Ile96=
NM_001024466.1:c.227-3148C>T	NP_001019637.1:n.227-3148C>T
NM_000636.3:c.288C>T	NP_000627.2:p.Ile96=
NM_001024465.2:c.288C>T	NP_001019636.1:p.Ile96=
NM_001024466.2:c.227-3148C>T	NP_001019637.1:n.227-3148C>T
NM_001322814.1:c.227-3148C>T	NP_001309743.1:n.227-3148C>T
NM_001322815.1:c.288C>T	NP_001309744.1:p.Ile96=
NM_001322817.1:c.150C>T	NP_001309746.1:p.Ile50=
NM_001322819.1:c.150C>T	NP_001309748.1:p.Ile50=
NM_001322820.1:c.150C>T	NP_001309749.1:p.Ile50=
NM_000636.4:c.288C>T MANE Select	NP_000627.2:p.Ile96=
NM_001024465.3:c.288C>T	NP_001019636.1:p.Ile96=
NM_001024466.3:c.227-3148C>T	NP_001019637.1:n.227-3148C>T
NM_001322814.2:c.227-3148C>T	NP_001309743.1:n.227-3148C>T
NM_001322815.2:c.288C>T	NP_001309744.1:p.Ile96=
NM_001322817.2:c.150C>T	NP_001309746.1:p.Ile50=
NM_001322819.2:c.150C>T	NP_001309748.1:p.Ile50=
NM_001322820.2:c.150C>T	NP_001309749.1:p.Ile50=