Canonical Allele Identifier: CA1854107470
Gene: TJP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69225337_69225338delinsTA , CM000671.2:g.69225337_69225338delinsTA GRCh38
NC_000009.11:g.71840253_71840254delinsTA , CM000671.1:g.71840253_71840254delinsTA GRCh37
NC_000009.10:g.71030073_71030074delinsTA NCBI36
NG_016342.1:g.109030_109031delinsTA
NG_016342.2:g.129431_129432delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000348208.9:c.986_987delinsTA ENSP00000345893.4:p.Val329=
ENST00000377245.9:c.986_987delinsTA MANE Select ENSP00000366453.4:p.Val329=
ENST00000535702.6:c.998_999delinsTA ENSP00000442090.1:p.Val333=
ENST00000539225.2:c.1079_1080delinsTA ENSP00000438262.1:p.Val360=
ENST00000636247.1:n.1065_1066delinsTA
ENST00000636438.1:c.1163_1164delinsTA ENSP00000489860.1:p.Val388=
ENST00000642889.1:c.1373_1374delinsTA ENSP00000493780.1:p.Val458=
ENST00000643352.1:c.*1174_*1175delinsTA ENSP00000496488.1:n.*1174_*1175delinsTA
ENST00000645088.1:c.*1293_*1294delinsTA ENSP00000495447.1:n.*1293_*1294delinsTA
ENST00000647986.1:c.917_918delinsTA ENSP00000496877.1:p.Val306=
ENST00000648087.1:n.1303_1304delinsTA
ENST00000648153.1:n.129_130delinsTA
ENST00000648862.1:n.198_199delinsTA
ENST00000649114.1:c.986_987delinsTA ENSP00000497328.1:p.Val329=
ENST00000649134.1:c.998_999delinsTA ENSP00000498068.1:p.Val333=
ENST00000649783.1:n.1010_1011delinsTA
ENST00000649943.1:c.986_987delinsTA ENSP00000497539.1:p.Val329=
ENST00000650084.1:c.989_990delinsTA ENSP00000497861.1:p.Val330=
ENST00000650333.1:c.917_918delinsTA ENSP00000496791.1:p.Val306=
ENST00000650460.1:c.259_260delinsTA
ENST00000650522.1:n.976+3841_976+3842delinsTA
ENST00000265384.11:c.986_987delinsTA ENSP00000265384.7:p.Val329=
ENST00000348208.8:c.986_987delinsTA ENSP00000345893.4:p.Val329=
ENST00000377245.8:c.986_987delinsTA ENSP00000366453.4:p.Val329=
ENST00000453658.6:c.917_918delinsTA ENSP00000392178.2:p.Val306=
ENST00000535702.5:c.998_999delinsTA ENSP00000442090.1:p.Val333=
ENST00000539225.1:c.1079_1080delinsTA ENSP00000438262.1:p.Val360=
NM_001170414.2:c.917_918delinsTA NP_001163885.1:p.Val306=
NM_001170415.1:c.998_999delinsTA NP_001163886.1:p.Val333=
NM_001170416.1:c.1079_1080delinsTA NP_001163887.1:p.Val360=
NM_001170630.1:c.986_987delinsTA NP_001164101.1:p.Val329=
NM_004817.3:c.986_987delinsTA NP_004808.2:p.Val329=
NM_201629.3:c.986_987delinsTA NP_963923.1:p.Val329=
XM_005252314.1:c.998_999delinsTA XP_005252371.1:p.Val333=
XM_006717324.2:c.980_981delinsTA XP_006717387.1:p.Val327=
XM_011519204.1:c.917_918delinsTA XP_011517506.1:p.Val306=
XM_011519205.1:c.917_918delinsTA XP_011517507.1:p.Val306=
XM_011519206.1:c.917_918delinsTA XP_011517508.1:p.Val306=
XM_011519207.1:c.917_918delinsTA XP_011517509.1:p.Val306=
XM_011519208.1:c.917_918delinsTA XP_011517510.1:p.Val306=
XM_011519209.1:c.917_918delinsTA XP_011517511.1:p.Val306=
NM_004817.4:c.986_987delinsTA MANE Select NP_004808.2:p.Val329=
XM_005252314.2:c.998_999delinsTA XP_005252371.1:p.Val333=
XM_011519206.2:c.917_918delinsTA XP_011517508.1:p.Val306=
XM_011519207.2:c.917_918delinsTA XP_011517509.1:p.Val306=
XM_011519208.2:c.917_918delinsTA XP_011517510.1:p.Val306=
XM_011519209.2:c.917_918delinsTA XP_011517511.1:p.Val306=
XM_017015327.2:c.986_987delinsTA XP_016870816.1:p.Val329=
XM_017015328.1:c.998_999delinsTA XP_016870817.1:p.Val333=
NM_001170416.2:c.1079_1080delinsTA NP_001163887.1:p.Val360=
NM_001369870.1:c.917_918delinsTA NP_001356799.1:p.Val306=
NM_001369871.1:c.917_918delinsTA NP_001356800.1:p.Val306=
NM_001369872.1:c.986_987delinsTA NP_001356801.1:p.Val329=
NM_001369873.1:c.986_987delinsTA NP_001356802.1:p.Val329=
NM_001369874.1:c.998_999delinsTA NP_001356803.1:p.Val333=
NM_001369875.1:c.998_999delinsTA NP_001356804.1:p.Val333=