LDH info

Canonical Allele Identifier: CA224975
Gene: CHMP2B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 1655
dbSNP Id: rs63750355

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.87253472C>T , CM000665.2:g.87253472C>T GRCh38
NC_000003.11:g.87302622C>T , CM000665.1:g.87302622C>T GRCh37
NC_000003.10:g.87385312C>T NCBI36
NG_007885.1:g.31210C>T

Transcript Alleles

HGVS Amino-acid change
NM_001244644.1:c.370C>T VV NP_001231573.1:p.Gln124Ter
NM_014043.3:c.493C>T VV NP_054762.2:p.Gln165Ter
XM_011533576.1:c.541C>T XP_011531878.1:p.Gln181Ter
XM_011533576.2:c.541C>T XP_011531878.1:p.Gln181Ter
NM_014043.4:c.493C>T VV MANE Preferred NP_054762.2:p.Gln165Ter
NM_001244644.2:c.370C>T VV NP_001231573.1:p.Gln124Ter
ENST00000263780.8:c.493C>T ENSP00000263780.4:p.Gln165Ter
ENST00000466696.1:n.424C>T
ENST00000471660.5:c.370C>T ENSP00000419998.1:p.Gln124Ter
ENST00000494980.5:c.403C>T ENSP00000418920.1:p.Gln135Ter