Canonical Allele Identifier: CA1854107435

Gene: TJP2

Linked Data

• dbSNP Id: rs765135354

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69225331_69225339dup , CM000671.2:g.69225331_69225339dup	GRCh38
NC_000009.11:g.71840247_71840255dup , CM000671.1:g.71840247_71840255dup	GRCh37
NC_000009.10:g.71030067_71030075dup	NCBI36
NG_016342.1:g.109024_109032dup
NG_016342.2:g.129425_129433dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.980_988dup	ENSP00000345893.4:p.Val329_Lys330insIlePheVal
ENST00000377245.9:c.980_988dup MANE Select	ENSP00000366453.4:p.Val329_Lys330insIlePheVal
ENST00000535702.6:c.992_1000dup	ENSP00000442090.1:p.Val333_Lys334insIlePheVal
ENST00000539225.2:c.1073_1081dup	ENSP00000438262.1:p.Val360_Lys361insIlePheVal
ENST00000636247.1:n.1059_1067dup
ENST00000636438.1:c.1157_1165dup	ENSP00000489860.1:p.Val388_Lys389insIlePheVal
ENST00000642889.1:c.1367_1375dup	ENSP00000493780.1:p.Val458_Lys459insIlePheVal
ENST00000643352.1:c.*1168_*1176dup	ENSP00000496488.1:n.*1168_*1176dup
ENST00000645088.1:c.*1287_*1295dup	ENSP00000495447.1:n.*1287_*1295dup
ENST00000647986.1:c.911_919dup	ENSP00000496877.1:p.Val306_Lys307insIlePheVal
ENST00000648087.1:n.1297_1305dup
ENST00000648153.1:n.123_131dup
ENST00000648862.1:n.192_200dup
ENST00000649114.1:c.980_988dup	ENSP00000497328.1:p.Val329_Lys330insIlePheVal
ENST00000649134.1:c.992_1000dup	ENSP00000498068.1:p.Val333_Lys334insIlePheVal
ENST00000649783.1:n.1004_1012dup
ENST00000649943.1:c.980_988dup	ENSP00000497539.1:p.Val329_Lys330insIlePheVal
ENST00000650084.1:c.983_991dup	ENSP00000497861.1:p.Val330_Lys331insIlePheVal
ENST00000650333.1:c.911_919dup	ENSP00000496791.1:p.Val306_Lys307insIlePheVal
ENST00000650460.1:c.253_261dup
ENST00000650522.1:n.976+3835_976+3843dup
ENST00000265384.11:c.980_988dup	ENSP00000265384.7:p.Val329_Lys330insIlePheVal
ENST00000348208.8:c.980_988dup	ENSP00000345893.4:p.Val329_Lys330insIlePheVal
ENST00000377245.8:c.980_988dup	ENSP00000366453.4:p.Val329_Lys330insIlePheVal
ENST00000453658.6:c.911_919dup	ENSP00000392178.2:p.Val306_Lys307insIlePheVal
ENST00000535702.5:c.992_1000dup	ENSP00000442090.1:p.Val333_Lys334insIlePheVal
ENST00000539225.1:c.1073_1081dup	ENSP00000438262.1:p.Val360_Lys361insIlePheVal
NM_001170414.2:c.911_919dup	NP_001163885.1:p.Val306_Lys307insIlePheVal
NM_001170415.1:c.992_1000dup	NP_001163886.1:p.Val333_Lys334insIlePheVal
NM_001170416.1:c.1073_1081dup	NP_001163887.1:p.Val360_Lys361insIlePheVal
NM_001170630.1:c.980_988dup	NP_001164101.1:p.Val329_Lys330insIlePheVal
NM_004817.3:c.980_988dup	NP_004808.2:p.Val329_Lys330insIlePheVal
NM_201629.3:c.980_988dup	NP_963923.1:p.Val329_Lys330insIlePheVal
XM_005252314.1:c.992_1000dup	XP_005252371.1:p.Val333_Lys334insIlePheVal
XM_006717324.2:c.974_982dup	XP_006717387.1:p.Val327_Lys328insIlePheVal
XM_011519204.1:c.911_919dup	XP_011517506.1:p.Val306_Lys307insIlePheVal
XM_011519205.1:c.911_919dup	XP_011517507.1:p.Val306_Lys307insIlePheVal
XM_011519206.1:c.911_919dup	XP_011517508.1:p.Val306_Lys307insIlePheVal
XM_011519207.1:c.911_919dup	XP_011517509.1:p.Val306_Lys307insIlePheVal
XM_011519208.1:c.911_919dup	XP_011517510.1:p.Val306_Lys307insIlePheVal
XM_011519209.1:c.911_919dup	XP_011517511.1:p.Val306_Lys307insIlePheVal
NM_004817.4:c.980_988dup MANE Select	NP_004808.2:p.Val329_Lys330insIlePheVal
XM_005252314.2:c.992_1000dup	XP_005252371.1:p.Val333_Lys334insIlePheVal
XM_011519206.2:c.911_919dup	XP_011517508.1:p.Val306_Lys307insIlePheVal
XM_011519207.2:c.911_919dup	XP_011517509.1:p.Val306_Lys307insIlePheVal
XM_011519208.2:c.911_919dup	XP_011517510.1:p.Val306_Lys307insIlePheVal
XM_011519209.2:c.911_919dup	XP_011517511.1:p.Val306_Lys307insIlePheVal
XM_017015327.2:c.980_988dup	XP_016870816.1:p.Val329_Lys330insIlePheVal
XM_017015328.1:c.992_1000dup	XP_016870817.1:p.Val333_Lys334insIlePheVal
NM_001170416.2:c.1073_1081dup	NP_001163887.1:p.Val360_Lys361insIlePheVal
NM_001369870.1:c.911_919dup	NP_001356799.1:p.Val306_Lys307insIlePheVal
NM_001369871.1:c.911_919dup	NP_001356800.1:p.Val306_Lys307insIlePheVal
NM_001369872.1:c.980_988dup	NP_001356801.1:p.Val329_Lys330insIlePheVal
NM_001369873.1:c.980_988dup	NP_001356802.1:p.Val329_Lys330insIlePheVal
NM_001369874.1:c.992_1000dup	NP_001356803.1:p.Val333_Lys334insIlePheVal
NM_001369875.1:c.992_1000dup	NP_001356804.1:p.Val333_Lys334insIlePheVal