LDH info

Canonical Allele Identifier: CA145326
Gene: HERC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 88738
ClinVar RCV Id: RCV000074397
dbSNP Id: rs397518474

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28265707G>A , CM000677.2:g.28265707G>A GRCh38
NC_000015.9:g.28510853G>A , CM000677.1:g.28510853G>A GRCh37
NC_000015.8:g.26184448G>A NCBI36
NG_016355.1:g.61443C>T

Transcript Alleles

HGVS Amino-acid change
NM_004667.5:c.1781C>T VV NP_004658.3:p.Pro594Leu
XM_005268276.3:c.1667C>T XP_005268333.1:p.Pro556Leu
XM_005268277.3:c.1667C>T XP_005268334.1:p.Pro556Leu
XM_006720726.2:c.1781C>T XP_006720789.1:p.Pro594Leu
XM_006720727.2:c.1523C>T XP_006720790.1:p.Pro508Leu
XM_011522131.1:c.1298C>T XP_011520433.1:p.Pro433Leu
XM_011522132.1:c.107+6508C>T XP_011520434.1:p.=
XM_011522133.1:c.323-26935C>T XP_011520435.1:p.=
XM_011522135.1:c.1781C>T XP_011520437.1:p.Pro594Leu
XM_011522136.1:c.1781C>T XP_011520438.1:p.Pro594Leu
XM_011522137.1:c.1781C>T XP_011520439.1:p.Pro594Leu
XR_931930.1:n.1910C>T
XR_931931.1:n.1910C>T
XM_005268276.5:c.1667C>T XP_005268333.1:p.Pro556Leu
XM_006720726.3:c.1781C>T XP_006720789.1:p.Pro594Leu
XM_006720727.3:c.1523C>T XP_006720790.1:p.Pro508Leu
XM_017022695.1:c.1667C>T XP_016878184.1:p.Pro556Leu
XM_017022696.1:c.1667C>T XP_016878185.1:p.Pro556Leu
XR_001751410.1:n.1911C>T
XR_931930.2:n.1911C>T
NM_004667.6:c.1781C>T VV MANE Preferred NP_004658.3:p.Pro594Leu
ENST00000261609.11:c.1781C>T ENSP00000261609.7:p.Pro594Leu
ENST00000564734.5:c.*1651C>T ENSP00000456237.1:p.=