LDH info

Canonical Allele Identifier: CA16618400
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 418247
ClinVar RCV Id: RCV000482977

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947684del , CM000669.2:g.150947684del GRCh38
NC_000007.13:g.150644772del , CM000669.1:g.150644772del GRCh37
NC_000007.12:g.150275705del NCBI36
NG_008916.1:g.35248del , LRG_288:g.35248del

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.2892del , LRG_288t1:c.2892del NP_000229.1:p.Gly965GlufsTer9
NM_172057.2:c.1872del , LRG_288t3:c.1872del NP_742054.1:p.Gly625GlufsTer9
XM_011516185.1:c.2592del XP_011514487.1:p.Gly865GlufsTer9
XM_011516186.1:c.2705del XP_011514488.1:p.Pro902ArgfsTer?
XM_011516185.2:c.2592del XP_011514487.1:p.Gly865GlufsTer9
XM_011516186.3:c.2705del XP_011514488.1:p.Pro902ArgfsTer?
XM_017012195.1:c.2742del XP_016867684.1:p.Gly915GlufsTer9
XM_017012196.1:c.2715del XP_016867685.1:p.Gly906GlufsTer9
NM_000238.4:c.2892del VV NP_000229.1:p.Gly965GlufsTer9
ENST00000262186.9:c.2892del ENSP00000262186.5:p.Gly965GlufsTer9
ENST00000330883.8:c.1872del ENSP00000328531.4:p.Gly625GlufsTer9