Canonical Allele Identifier: CA1676684185
Community Standard Title: NM_000636.4(SOD2):c.523+816G=
Gene: SOD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159684038C= , CM000668.2:g.159684038C= GRCh38
NC_000006.11:g.160105070C= , CM000668.1:g.160105070C= GRCh37
NC_000006.10:g.160025060C= NCBI36
NG_008729.1:g.14284G=
NG_008729.3:g.83492G=

Transcript Alleles

HGVS Amino-acid Change
NM_000636.4:c.523+816G= MANE Select NP_000627.2:n.523+816G=
ENST00000538183.7:c.523+816G= MANE Select ENSP00000446252.1:n.523+816G=
NM_000636.2:c.523+816G= NP_000627.2:n.523+816G=
NM_000636.3:c.523+816G= NP_000627.2:n.523+816G=
NM_001024465.1:c.523+816G= NP_001019636.1:n.523+816G=
NM_001024465.2:c.523+816G= NP_001019636.1:n.523+816G=
NM_001024465.3:c.523+816G= NP_001019636.1:n.523+816G=
NM_001024466.1:c.406+816G= NP_001019637.1:n.406+816G=
NM_001024466.2:c.406+816G= NP_001019637.1:n.406+816G=
NM_001024466.3:c.406+816G= NP_001019637.1:n.406+816G=
NM_001322814.1:c.406+816G= NP_001309743.1:n.406+816G=
NM_001322814.2:c.406+816G= NP_001309743.1:n.406+816G=
NM_001322815.1:c.344-1400G= NP_001309744.1:n.344-1400G=
NM_001322815.2:c.344-1400G= NP_001309744.1:n.344-1400G=
NM_001322817.1:c.385+816G= NP_001309746.1:n.385+816G=
NM_001322817.2:c.385+816G= NP_001309746.1:n.385+816G=
NM_001322819.1:c.385+816G= NP_001309748.1:n.385+816G=
NM_001322819.2:c.385+816G= NP_001309748.1:n.385+816G=
NM_001322820.1:c.385+816G= NP_001309749.1:n.385+816G=
NM_001322820.2:c.385+816G= NP_001309749.1:n.385+816G=
ENST00000337404.8:c.406+816G= ENSP00000337127.4:n.406+816G=
ENST00000367054.6:c.406+816G= ENSP00000356021.2:n.406+816G=
ENST00000367055.8:c.523+816G= ENSP00000356022.4:n.523+816G=
ENST00000444946.6:c.344-1400G= ENSP00000404804.2:n.344-1400G=
ENST00000535459.5:n.403+816G=
ENST00000538183.6:c.523+816G= ENSP00000446252.1:n.523+816G=
ENST00000540491.1:n.425+816G=
ENST00000541573.5:n.416+816G=
ENST00000546087.5:c.385+816G= ENSP00000442920.1:n.385+816G=
ENST00000546260.5:c.*227+816G= ENSP00000440131.1:n.*227+816G=