LDH info

Canonical Allele Identifier: CA5073861
Gene: TJP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 259554
ClinVar RCV Id: RCV000253272
dbSNP Id: rs2282335

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69251016G>A , CM000671.2:g.69251016G>A GRCh38
NC_000009.11:g.71865932G>A , CM000671.1:g.71865932G>A GRCh37
NC_000009.10:g.71055752G>A NCBI36
NG_016342.1:g.134709G>A
NG_016342.2:g.155110G>A

Transcript Alleles

HGVS Amino-acid change
NM_001170414.2:c.2812-1799G>A VV NP_001163885.1:p.=
NM_001170415.1:c.2893-19G>A VV NP_001163886.1:p.=
NM_001170416.1:n.3085-19G>A VV NP_001163887.1:p.=
NM_004817.3:c.2992-19G>A VV NP_004808.2:p.=
NM_201629.3:c.2881-1799G>A VV NP_963923.1:p.=
XM_005252314.1:c.3004-19G>A XP_005252371.1:p.=
XM_006717324.2:c.2986-19G>A XP_006717387.1:p.=
XM_011519204.1:c.2812-19G>A XP_011517506.1:p.=
XM_011519205.1:c.2923-19G>A XP_011517507.1:p.=
XM_011519206.1:c.2923-19G>A XP_011517508.1:p.=
XM_011519207.1:c.2923-19G>A XP_011517509.1:p.=
XM_011519208.1:c.2923-19G>A XP_011517510.1:p.=
XM_011519209.1:c.2923-19G>A XP_011517511.1:p.=
NM_004817.4:c.2992-19G>A VV NP_004808.2:p.=
XM_005252314.2:c.3004-19G>A XP_005252371.1:p.=
XM_011519206.2:c.2923-19G>A XP_011517508.1:p.=
XM_011519207.2:c.2923-19G>A XP_011517509.1:p.=
XM_011519208.2:c.2923-19G>A XP_011517510.1:p.=
XM_011519209.2:c.2923-19G>A XP_011517511.1:p.=
XM_017015327.2:c.2881-19G>A XP_016870816.1:p.=
XM_017015328.1:c.2893-1799G>A XP_016870817.1:p.=
ENST00000348208.8:c.2881-1799G>A ENSP00000345893.4:p.=
ENST00000377245.8:c.2992-19G>A ENSP00000366453.4:p.=
ENST00000453658.6:c.2812-1799G>A ENSP00000392178.2:p.=
ENST00000535702.5:c.2893-19G>A ENSP00000442090.1:p.=
ENST00000539225.1:n.3085-19G>A ENSP00000438262.1:p.=