Canonical Allele Identifier: CA236466
Gene: TJP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 191345
ClinVar RCV Id: RCV000171538
dbSNP Id: rs786205659

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69225352del , CM000671.2:g.69225352del GRCh38
NC_000009.11:g.71840268del , CM000671.1:g.71840268del GRCh37
NC_000009.10:g.71030088del NCBI36
NG_016342.1:g.109045del
NG_016342.2:g.129446del

Transcript Alleles

HGVS Amino-acid change
ENST00000348208.9:c.1001del ENSP00000345893.4:p.Arg334GlnfsTer16
ENST00000377245.9:c.1001del MANE Select ENSP00000366453.4:p.Arg334GlnfsTer16
ENST00000535702.6:c.1013del ENSP00000442090.1:p.Arg338GlnfsTer16
ENST00000539225.2:n.1094del ENSP00000438262.1:p.Arg365GlnfsTer16
ENST00000636247.1:n.1080del
ENST00000636438.1:c.1178del ENSP00000489860.1:p.Arg393GlnfsTer16
ENST00000642889.1:c.1388del ENSP00000493780.1:p.Arg463GlnfsTer16
ENST00000643352.1:c.*1189del ENSP00000496488.1:p.=
ENST00000645088.1:c.*1308del ENSP00000495447.1:p.=
ENST00000647986.1:c.932del ENSP00000496877.1:p.Arg311GlnfsTer16
ENST00000648087.1:n.1318del
ENST00000648153.1:n.144del
ENST00000648862.1:n.213del
ENST00000649114.1:c.1001del ENSP00000497328.1:p.Arg334GlnfsTer16
ENST00000649134.1:c.1013del ENSP00000498068.1:p.Arg338GlnfsTer16
ENST00000649783.1:n.1025del
ENST00000649943.1:c.1001del ENSP00000497539.1:p.Arg334GlnfsTer16
ENST00000650084.1:n.1004del ENSP00000497861.1:p.Arg335GlnfsTer16
ENST00000650333.1:c.932del ENSP00000496791.1:p.Arg311GlnfsTer16
ENST00000650460.1:n.274del
ENST00000650522.1:n.977-3832del
ENST00000265384.11:c.1001del ENSP00000265384.7:p.Arg334GlnfsTer16
ENST00000348208.8:c.1001del ENSP00000345893.4:p.Arg334GlnfsTer16
ENST00000377245.8:c.1001del ENSP00000366453.4:p.Arg334GlnfsTer16
ENST00000453658.6:c.932del ENSP00000392178.2:p.Arg311GlnfsTer16
ENST00000535702.5:c.1013del ENSP00000442090.1:p.Arg338GlnfsTer16
ENST00000539225.1:n.1094del ENSP00000438262.1:p.Arg365GlnfsTer16
NM_001170414.2:c.932del NP_001163885.1:p.Arg311GlnfsTer16
NM_001170415.1:c.1013del NP_001163886.1:p.Arg338GlnfsTer16
NM_001170416.1:n.1094del NP_001163887.1:p.Arg365GlnfsTer16
NM_001170630.1:c.1001del NP_001164101.1:p.Arg334GlnfsTer16
NM_004817.3:c.1001del NP_004808.2:p.Arg334GlnfsTer16
NM_201629.3:c.1001del NP_963923.1:p.Arg334GlnfsTer16
XM_005252314.1:c.1013del XP_005252371.1:p.Arg338GlnfsTer16
XM_006717324.2:c.995del XP_006717387.1:p.Arg332GlnfsTer16
XM_011519204.1:c.932del XP_011517506.1:p.Arg311GlnfsTer16
XM_011519205.1:c.932del XP_011517507.1:p.Arg311GlnfsTer16
XM_011519206.1:c.932del XP_011517508.1:p.Arg311GlnfsTer16
XM_011519207.1:c.932del XP_011517509.1:p.Arg311GlnfsTer16
XM_011519208.1:c.932del XP_011517510.1:p.Arg311GlnfsTer16
XM_011519209.1:c.932del XP_011517511.1:p.Arg311GlnfsTer16
NM_004817.4:c.1001del MANE Select NP_004808.2:p.Arg334GlnfsTer16
XM_005252314.2:c.1013del XP_005252371.1:p.Arg338GlnfsTer16
XM_011519206.2:c.932del XP_011517508.1:p.Arg311GlnfsTer16
XM_011519207.2:c.932del XP_011517509.1:p.Arg311GlnfsTer16
XM_011519208.2:c.932del XP_011517510.1:p.Arg311GlnfsTer16
XM_011519209.2:c.932del XP_011517511.1:p.Arg311GlnfsTer16
XM_017015327.2:c.1001del XP_016870816.1:p.Arg334GlnfsTer16
XM_017015328.1:c.1013del XP_016870817.1:p.Arg338GlnfsTer16
NM_001170416.2:c.1094del NP_001163887.1:p.Arg365GlnfsTer16
NM_001369870.1:c.932del NP_001356799.1:p.Arg311GlnfsTer16
NM_001369871.1:c.932del NP_001356800.1:p.Arg311GlnfsTer16
NM_001369872.1:c.1001del NP_001356801.1:p.Arg334GlnfsTer16
NM_001369873.1:c.1001del NP_001356802.1:p.Arg334GlnfsTer16
NM_001369874.1:c.1013del NP_001356803.1:p.Arg338GlnfsTer16
NM_001369875.1:c.1013del NP_001356804.1:p.Arg338GlnfsTer16