LDH info

Canonical Allele Identifier: CA124294
Gene: SOD2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14751
dbSNP Id: rs4880

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.159692840A>G , CM000668.2:g.159692840A>G GRCh38
NC_000006.11:g.160113872A>G , CM000668.1:g.160113872A>G GRCh37
NC_000006.10:g.160033862A>G NCBI36
NG_008729.1:g.5482T>C
NG_008729.3:g.74690T>C

Transcript Alleles

HGVS Amino-acid change
NM_000636.2:c.47T>C VV NP_000627.2:p.Val16Ala
NM_001024465.1:c.47T>C VV NP_001019636.1:p.Val16Ala
NM_001024466.1:c.47T>C VV NP_001019637.1:p.Val16Ala
NM_000636.3:c.47T>C VV NP_000627.2:p.Val16Ala
NM_001024465.2:c.47T>C VV NP_001019636.1:p.Val16Ala
NM_001024466.2:c.47T>C VV NP_001019637.1:p.Val16Ala
NM_001322814.1:c.47T>C VV NP_001309743.1:p.Val16Ala
NM_001322815.1:c.47T>C VV NP_001309744.1:p.Val16Ala
NM_001322816.1:c.47T>C VV NP_001309745.1:p.Val16Ala
NM_001322817.1:c.-92T>C VV NP_001309746.1:p.=
NM_001322819.1:c.-92T>C VV NP_001309748.1:p.=
NM_001322820.1:c.-92T>C VV NP_001309749.1:p.=
NM_000636.4:c.47T>C VV MANE Preferred NP_000627.2:p.Val16Ala
NM_001024465.3:c.47T>C VV NP_001019636.1:p.Val16Ala
NM_001024466.3:c.47T>C VV NP_001019637.1:p.Val16Ala
NM_001322814.2:c.47T>C VV NP_001309743.1:p.Val16Ala
NM_001322815.2:c.47T>C VV NP_001309744.1:p.Val16Ala
NM_001322817.2:c.-92T>C VV NP_001309746.1:p.=
NM_001322819.2:c.-92T>C VV NP_001309748.1:p.=
NM_001322820.2:c.-92T>C VV NP_001309749.1:p.=
ENST00000337404.8:c.47T>C ENSP00000337127.4:p.Val16Ala
ENST00000367054.6:c.47T>C ENSP00000356021.2:p.Val16Ala
ENST00000367055.8:c.47T>C ENSP00000356022.4:p.Val16Ala
ENST00000401980.3:c.-92T>C ENSP00000384196.3:p.=
ENST00000444946.6:c.47T>C ENSP00000404804.2:p.Val16Ala
ENST00000452684.2:c.47T>C ENSP00000406713.2:p.Val16Ala
ENST00000535561.5:c.116T>C ENSP00000445015.1:p.Val39Ala
ENST00000537657.5:c.-92T>C ENSP00000439191.1:p.=
ENST00000538183.6:c.47T>C ENSP00000446252.1:p.Val16Ala
ENST00000545162.5:n.116T>C ENSP00000441362.1:p.Val39Ala
ENST00000546087.5:c.-92T>C ENSP00000442920.1:p.=
ENST00000546260.5:c.47T>C ENSP00000440131.1:p.Val16Ala