LDH info

Canonical Allele Identifier: CA341431
Gene: EGR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 16750
ClinVar RCV Id: RCV000018234
dbSNP Id: rs104894159

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.62813413G>A , CM000672.2:g.62813413G>A GRCh38
NC_000010.10:g.64573173G>A , CM000672.1:g.64573173G>A GRCh37
NC_000010.9:g.64243179G>A NCBI36
NG_008936.2:g.111488C>T , LRG_239:g.111488C>T

Transcript Alleles

HGVS Amino-acid change
NM_000399.3:c.1225C>T , LRG_239t1:c.1225C>T NP_000390.2:p.Arg409Trp
NM_001136177.1:c.1225C>T VV NP_001129649.1:p.Arg409Trp
NM_001136178.1:c.1225C>T VV NP_001129650.1:p.Arg409Trp
NM_001136179.1:c.1075C>T VV NP_001129651.1:p.Arg359Trp
XM_011539427.1:c.1264C>T XP_011537729.1:p.Arg422Trp
XM_011539428.1:c.1075C>T XP_011537730.1:p.Arg359Trp
XM_011539429.1:c.1075C>T XP_011537731.1:p.Arg359Trp
NM_000399.4:c.1225C>T VV NP_000390.2:p.Arg409Trp
NM_001136177.2:c.1225C>T VV NP_001129649.1:p.Arg409Trp
NM_001136179.2:c.1075C>T VV NP_001129651.1:p.Arg359Trp
NM_001321037.1:c.1075C>T VV NP_001307966.1:p.Arg359Trp
NM_000399.5:c.1225C>T VV MANE Preferred NP_000390.2:p.Arg409Trp
NM_001136177.3:c.1225C>T VV NP_001129649.1:p.Arg409Trp
NM_001136179.3:c.1075C>T VV NP_001129651.1:p.Arg359Trp
NM_001321037.2:c.1075C>T VV NP_001307966.1:p.Arg359Trp
ENST00000242480.3:c.1225C>T ENSP00000242480.3:p.Arg409Trp
ENST00000411732.2:c.1075C>T ENSP00000387634.1:p.Arg359Trp
ENST00000439032.4:c.1225C>T ENSP00000402040.1:p.Arg409Trp