Canonical Allele Identifier: CA571506571

Gene: SOD2

Linked Data

• dbSNP Id: rs1409648518
• gnomAD v2: 6-160109013-A-AG
• gnomAD v3: 6-159687981-A-AG
• gnomAD v4: 6-159687981-A-AG
• MyVariant Identifiers: chr6:g.160109013_160109014insG (hg19) ; chr6:g.159687981_159687982insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.159687982dup , CM000668.2:g.159687982dup	GRCh38
NC_000006.11:g.160109014dup , CM000668.1:g.160109014dup	GRCh37
NC_000006.10:g.160029004dup	NCBI36
NG_008729.1:g.10340dup
NG_008729.3:g.79548dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538183.7:c.343+144dup MANE Select	ENSP00000446252.1:n.343+144dup
ENST00000337404.8:c.227-2949dup	ENSP00000337127.4:n.227-2949dup
ENST00000367054.6:c.227-2949dup	ENSP00000356021.2:n.227-2949dup
ENST00000367055.8:c.343+144dup	ENSP00000356022.4:n.343+144dup
ENST00000401980.3:c.89-2949dup	ENSP00000384196.3:n.89-2949dup
ENST00000444946.6:c.343+144dup	ENSP00000404804.2:n.343+144dup
ENST00000535459.5:n.223+144dup
ENST00000535561.5:c.412+144dup	ENSP00000445015.1:n.412+144dup
ENST00000537657.5:c.205+144dup	ENSP00000439191.1:n.205+144dup
ENST00000538183.6:c.343+144dup	ENSP00000446252.1:n.343+144dup
ENST00000540491.1:n.246-2949dup
ENST00000541573.5:n.236+144dup
ENST00000545162.5:c.412+144dup	ENSP00000441362.1:n.412+144dup
ENST00000546087.5:c.205+144dup	ENSP00000442920.1:n.205+144dup
ENST00000546260.5:c.*47+144dup	ENSP00000440131.1:n.*47+144dup
NM_000636.2:c.343+144dup	NP_000627.2:n.343+144dup
NM_001024465.1:c.343+144dup	NP_001019636.1:n.343+144dup
NM_001024466.1:c.227-2949dup	NP_001019637.1:n.227-2949dup
NM_000636.3:c.343+144dup	NP_000627.2:n.343+144dup
NM_001024465.2:c.343+144dup	NP_001019636.1:n.343+144dup
NM_001024466.2:c.227-2949dup	NP_001019637.1:n.227-2949dup
NM_001322814.1:c.227-2949dup	NP_001309743.1:n.227-2949dup
NM_001322815.1:c.343+144dup	NP_001309744.1:n.343+144dup
NM_001322817.1:c.205+144dup	NP_001309746.1:n.205+144dup
NM_001322819.1:c.205+144dup	NP_001309748.1:n.205+144dup
NM_001322820.1:c.205+144dup	NP_001309749.1:n.205+144dup
NM_000636.4:c.343+144dup MANE Select	NP_000627.2:n.343+144dup
NM_001024465.3:c.343+144dup	NP_001019636.1:n.343+144dup
NM_001024466.3:c.227-2949dup	NP_001019637.1:n.227-2949dup
NM_001322814.2:c.227-2949dup	NP_001309743.1:n.227-2949dup
NM_001322815.2:c.343+144dup	NP_001309744.1:n.343+144dup
NM_001322817.2:c.205+144dup	NP_001309746.1:n.205+144dup
NM_001322819.2:c.205+144dup	NP_001309748.1:n.205+144dup
NM_001322820.2:c.205+144dup	NP_001309749.1:n.205+144dup