LDH info

Canonical Allele Identifier: CA250701
Gene: COL2A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17388
ClinVar RCV Id: RCV000022481
dbSNP Id: rs121912888

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47985946C>T , CM000674.2:g.47985946C>T GRCh38
NC_000012.11:g.48379729C>T , CM000674.1:g.48379729C>T GRCh37
NC_000012.10:g.46665996C>T NCBI36
NG_008072.1:g.23557G>A

Transcript Alleles

HGVS Amino-acid change
NM_001844.4:c.1547G>A VV NP_001835.3:p.Gly516Asp
NM_033150.2:c.1340G>A VV NP_149162.2:p.Gly447Asp
XM_006719242.2:c.1691G>A XP_006719305.2:p.Gly564Asp
XM_011537928.1:c.1691G>A XP_011536230.1:p.Gly564Asp
XM_011537929.1:c.1691G>A XP_011536231.1:p.Gly564Asp
XM_011537930.1:c.1691G>A XP_011536232.1:p.Gly564Asp
XM_011537931.1:c.1691G>A XP_011536233.1:p.Gly564Asp
XM_011537932.1:c.1691G>A XP_011536234.1:p.Gly564Asp
XM_011537933.1:c.1691G>A XP_011536235.1:p.Gly564Asp
XM_011537934.1:c.1688G>A XP_011536236.1:p.Gly563Asp
XM_011537935.1:c.635G>A XP_011536237.1:p.Gly212Asp
XM_017018828.1:c.1691G>A XP_016874317.1:p.Gly564Asp
XM_017018829.1:c.1688G>A XP_016874318.1:p.Gly563Asp
XM_017018830.1:c.1481G>A XP_016874319.1:p.Gly494Asp
XM_017018831.2:c.1001G>A XP_016874320.1:p.Gly334Asp
NM_001844.5:c.1547G>A VV MANE Preferred NP_001835.3:p.Gly516Asp
NM_033150.3:c.1340G>A VV NP_149162.2:p.Gly447Asp
ENST00000337299.6:n.1340G>A ENSP00000338213.6:p.Gly447Asp
ENST00000380518.7:c.1547G>A ENSP00000369889.3:p.Gly516Asp
ENST00000493991.5:n.471G>A