Canonical Allele Identifier: CA366296268
Gene: SOD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159692758G>T , CM000668.2:g.159692758G>T GRCh38
NC_000006.11:g.160113790G>T , CM000668.1:g.160113790G>T GRCh37
NC_000006.10:g.160033780G>T NCBI36
NG_008729.1:g.5564C>A
NG_008729.3:g.74772C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000538183.7:c.129C>A MANE Select ENSP00000446252.1:p.Asn43Lys
ENST00000337404.8:c.129C>A ENSP00000337127.4:p.Asn43Lys
ENST00000367054.6:c.129C>A ENSP00000356021.2:p.Asn43Lys
ENST00000367055.8:c.129C>A ENSP00000356022.4:p.Asn43Lys
ENST00000401980.3:c.-10C>A ENSP00000384196.3:n.-10C>A
ENST00000444946.6:c.129C>A ENSP00000404804.2:p.Asn43Lys
ENST00000452684.2:c.129C>A ENSP00000406713.2:p.Asn43Lys
ENST00000535561.5:c.198C>A ENSP00000445015.1:p.Asn66Lys
ENST00000537657.5:c.-10C>A ENSP00000439191.1:n.-10C>A
ENST00000538183.6:c.129C>A ENSP00000446252.1:p.Asn43Lys
ENST00000545162.5:c.198C>A ENSP00000441362.1:p.Asn66Lys
ENST00000546087.5:c.-10C>A ENSP00000442920.1:n.-10C>A
ENST00000546260.5:c.129C>A ENSP00000440131.1:p.Asn43Lys
NM_000636.2:c.129C>A NP_000627.2:p.Asn43Lys
NM_001024465.1:c.129C>A NP_001019636.1:p.Asn43Lys
NM_001024466.1:c.129C>A NP_001019637.1:p.Asn43Lys
NM_000636.3:c.129C>A NP_000627.2:p.Asn43Lys
NM_001024465.2:c.129C>A NP_001019636.1:p.Asn43Lys
NM_001024466.2:c.129C>A NP_001019637.1:p.Asn43Lys
NM_001322814.1:c.129C>A NP_001309743.1:p.Asn43Lys
NM_001322815.1:c.129C>A NP_001309744.1:p.Asn43Lys
NM_001322816.1:c.129C>A NP_001309745.1:p.Asn43Lys
NM_001322817.1:c.-10C>A NP_001309746.1:n.-10C>A
NM_001322819.1:c.-10C>A NP_001309748.1:n.-10C>A
NM_001322820.1:c.-10C>A NP_001309749.1:n.-10C>A
NM_000636.4:c.129C>A MANE Select NP_000627.2:p.Asn43Lys
NM_001024465.3:c.129C>A NP_001019636.1:p.Asn43Lys
NM_001024466.3:c.129C>A NP_001019637.1:p.Asn43Lys
NM_001322814.2:c.129C>A NP_001309743.1:p.Asn43Lys
NM_001322815.2:c.129C>A NP_001309744.1:p.Asn43Lys
NM_001322817.2:c.-10C>A NP_001309746.1:n.-10C>A
NM_001322819.2:c.-10C>A NP_001309748.1:n.-10C>A
NM_001322820.2:c.-10C>A NP_001309749.1:n.-10C>A
NM_001322816.2:c.129C>A NP_001309745.1:p.Asn43Lys