Canonical Allele Identifier: CA2680994545

Gene: SOD2

Linked Data

• gnomAD v4: 6-159692836-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159692840del , CM000668.2:g.159692840del	GRCh38
NC_000006.11:g.160113872del , CM000668.1:g.160113872del	GRCh37
NC_000006.10:g.160033862del	NCBI36
NG_008729.1:g.5485del
NG_008729.3:g.74693del

Transcript Alleles

HGVS	Amino-acid change
ENST00000538183.7:c.50del MANE Select	ENSP00000446252.1:p.Leu17TrpfsTer?
ENST00000337404.8:c.50del	ENSP00000337127.4:p.Leu17TrpfsTer?
ENST00000367054.6:c.50del	ENSP00000356021.2:p.Leu17TrpfsTer?
ENST00000367055.8:c.50del	ENSP00000356022.4:p.Leu17TrpfsTer?
ENST00000401980.3:c.-89del	ENSP00000384196.3:n.-89del
ENST00000444946.6:c.50del	ENSP00000404804.2:p.Leu17TrpfsTer?
ENST00000452684.2:c.50del	ENSP00000406713.2:p.Leu17TrpfsTer?
ENST00000535561.5:c.119del	ENSP00000445015.1:p.Leu40TrpfsTer?
ENST00000537657.5:c.-89del	ENSP00000439191.1:n.-89del
ENST00000538183.6:c.50del	ENSP00000446252.1:p.Leu17TrpfsTer?
ENST00000545162.5:c.119del	ENSP00000441362.1:p.Leu40TrpfsTer?
ENST00000546087.5:c.-89del	ENSP00000442920.1:n.-89del
ENST00000546260.5:c.50del	ENSP00000440131.1:p.Leu17TrpfsTer?
NM_000636.2:c.50del	NP_000627.2:p.Leu17TrpfsTer?
NM_001024465.1:c.50del	NP_001019636.1:p.Leu17TrpfsTer?
NM_001024466.1:c.50del	NP_001019637.1:p.Leu17TrpfsTer?
NM_000636.3:c.50del	NP_000627.2:p.Leu17TrpfsTer?
NM_001024465.2:c.50del	NP_001019636.1:p.Leu17TrpfsTer?
NM_001024466.2:c.50del	NP_001019637.1:p.Leu17TrpfsTer?
NM_001322814.1:c.50del	NP_001309743.1:p.Leu17TrpfsTer?
NM_001322815.1:c.50del	NP_001309744.1:p.Leu17TrpfsTer?
NM_001322816.1:c.50del	NP_001309745.1:p.Leu17TrpfsTer?
NM_001322817.1:c.-89del	NP_001309746.1:n.-89del
NM_001322819.1:c.-89del	NP_001309748.1:n.-89del
NM_001322820.1:c.-89del	NP_001309749.1:n.-89del
NM_000636.4:c.50del MANE Select	NP_000627.2:p.Leu17TrpfsTer?
NM_001024465.3:c.50del	NP_001019636.1:p.Leu17TrpfsTer?
NM_001024466.3:c.50del	NP_001019637.1:p.Leu17TrpfsTer?
NM_001322814.2:c.50del	NP_001309743.1:p.Leu17TrpfsTer?
NM_001322815.2:c.50del	NP_001309744.1:p.Leu17TrpfsTer?
NM_001322817.2:c.-89del	NP_001309746.1:n.-89del
NM_001322819.2:c.-89del	NP_001309748.1:n.-89del
NM_001322820.2:c.-89del	NP_001309749.1:n.-89del
NM_001322816.2:c.50del	NP_001309745.1:p.Leu17TrpfsTer?