Canonical Allele Identifier: CA571506577

Gene: SOD2

Linked Data

• dbSNP Id: rs1317695787
• gnomAD v2: 6-160109129-TAGATA-T
• gnomAD v3: 6-159688097-TAGATA-T
• gnomAD v4: 6-159688097-TAGATA-T
• MyVariant Identifiers: chr6:g.160109130_160109134del (hg19) ; chr6:g.159688098_159688102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159688100_159688104del , CM000668.2:g.159688100_159688104del	GRCh38
NC_000006.11:g.160109132_160109136del , CM000668.1:g.160109132_160109136del	GRCh37
NC_000006.10:g.160029122_160029126del	NCBI36
NG_008729.1:g.10220_10224del
NG_008729.3:g.79428_79432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.343+24_343+28del MANE Select	ENSP00000446252.1:n.343+24_343+28del
ENST00000337404.8:c.227-3069_227-3065del	ENSP00000337127.4:n.227-3069_227-3065del
ENST00000367054.6:c.227-3069_227-3065del	ENSP00000356021.2:n.227-3069_227-3065del
ENST00000367055.8:c.343+24_343+28del	ENSP00000356022.4:n.343+24_343+28del
ENST00000401980.3:c.89-3069_89-3065del	ENSP00000384196.3:n.89-3069_89-3065del
ENST00000444946.6:c.343+24_343+28del	ENSP00000404804.2:n.343+24_343+28del
ENST00000535459.5:n.223+24_223+28del
ENST00000535561.5:c.412+24_412+28del	ENSP00000445015.1:n.412+24_412+28del
ENST00000537657.5:c.205+24_205+28del	ENSP00000439191.1:n.205+24_205+28del
ENST00000538183.6:c.343+24_343+28del	ENSP00000446252.1:n.343+24_343+28del
ENST00000540491.1:n.246-3069_246-3065del
ENST00000541573.5:n.236+24_236+28del
ENST00000545162.5:c.412+24_412+28del	ENSP00000441362.1:n.412+24_412+28del
ENST00000546087.5:c.205+24_205+28del	ENSP00000442920.1:n.205+24_205+28del
ENST00000546260.5:c.*47+24_*47+28del	ENSP00000440131.1:n.*47+24_*47+28del
NM_000636.2:c.343+24_343+28del	NP_000627.2:n.343+24_343+28del
NM_001024465.1:c.343+24_343+28del	NP_001019636.1:n.343+24_343+28del
NM_001024466.1:c.227-3069_227-3065del	NP_001019637.1:n.227-3069_227-3065del
NM_000636.3:c.343+24_343+28del	NP_000627.2:n.343+24_343+28del
NM_001024465.2:c.343+24_343+28del	NP_001019636.1:n.343+24_343+28del
NM_001024466.2:c.227-3069_227-3065del	NP_001019637.1:n.227-3069_227-3065del
NM_001322814.1:c.227-3069_227-3065del	NP_001309743.1:n.227-3069_227-3065del
NM_001322815.1:c.343+24_343+28del	NP_001309744.1:n.343+24_343+28del
NM_001322817.1:c.205+24_205+28del	NP_001309746.1:n.205+24_205+28del
NM_001322819.1:c.205+24_205+28del	NP_001309748.1:n.205+24_205+28del
NM_001322820.1:c.205+24_205+28del	NP_001309749.1:n.205+24_205+28del
NM_000636.4:c.343+24_343+28del MANE Select	NP_000627.2:n.343+24_343+28del
NM_001024465.3:c.343+24_343+28del	NP_001019636.1:n.343+24_343+28del
NM_001024466.3:c.227-3069_227-3065del	NP_001019637.1:n.227-3069_227-3065del
NM_001322814.2:c.227-3069_227-3065del	NP_001309743.1:n.227-3069_227-3065del
NM_001322815.2:c.343+24_343+28del	NP_001309744.1:n.343+24_343+28del
NM_001322817.2:c.205+24_205+28del	NP_001309746.1:n.205+24_205+28del
NM_001322819.2:c.205+24_205+28del	NP_001309748.1:n.205+24_205+28del
NM_001322820.2:c.205+24_205+28del	NP_001309749.1:n.205+24_205+28del