Canonical Allele Identifier: CA1854107431

Gene: TJP2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69225329_69225338delinsGATCTTCGTA , CM000671.2:g.69225329_69225338delinsGATCTTCGTA	GRCh38
NC_000009.11:g.71840245_71840254delinsGATCTTCGTA , CM000671.1:g.71840245_71840254delinsGATCTTCGTA	GRCh37
NC_000009.10:g.71030065_71030074delinsGATCTTCGTA	NCBI36
NG_016342.1:g.109022_109031delinsGATCTTCGTA
NG_016342.2:g.129423_129432delinsGATCTTCGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.978_987delinsGATCTTCGTA	ENSP00000345893.4:p.Gln326=
ENST00000377245.9:c.978_987delinsGATCTTCGTA MANE Select	ENSP00000366453.4:p.Gln326=
ENST00000535702.6:c.990_999delinsGATCTTCGTA	ENSP00000442090.1:p.Gln330=
ENST00000539225.2:c.1071_1080delinsGATCTTCGTA	ENSP00000438262.1:p.Gln357=
ENST00000636247.1:n.1057_1066delinsGATCTTCGTA
ENST00000636438.1:c.1155_1164delinsGATCTTCGTA	ENSP00000489860.1:p.Gln385=
ENST00000642889.1:c.1365_1374delinsGATCTTCGTA	ENSP00000493780.1:p.Gln455=
ENST00000643352.1:c.*1166_*1175delinsGATCTTCGTA	ENSP00000496488.1:n.*1166_*1175delinsGATCTTCGTA
ENST00000645088.1:c.*1285_*1294delinsGATCTTCGTA	ENSP00000495447.1:n.*1285_*1294delinsGATCTTCGTA
ENST00000647986.1:c.909_918delinsGATCTTCGTA	ENSP00000496877.1:p.Gln303=
ENST00000648087.1:n.1295_1304delinsGATCTTCGTA
ENST00000648153.1:n.121_130delinsGATCTTCGTA
ENST00000648862.1:n.190_199delinsGATCTTCGTA
ENST00000649114.1:c.978_987delinsGATCTTCGTA	ENSP00000497328.1:p.Gln326=
ENST00000649134.1:c.990_999delinsGATCTTCGTA	ENSP00000498068.1:p.Gln330=
ENST00000649783.1:n.1002_1011delinsGATCTTCGTA
ENST00000649943.1:c.978_987delinsGATCTTCGTA	ENSP00000497539.1:p.Gln326=
ENST00000650084.1:c.981_990delinsGATCTTCGTA	ENSP00000497861.1:p.Gln327=
ENST00000650333.1:c.909_918delinsGATCTTCGTA	ENSP00000496791.1:p.Gln303=
ENST00000650460.1:c.251_260delinsGATCTTCGTA
ENST00000650522.1:n.976+3833_976+3842delinsGATCTTCGTA
ENST00000265384.11:c.978_987delinsGATCTTCGTA	ENSP00000265384.7:p.Gln326=
ENST00000348208.8:c.978_987delinsGATCTTCGTA	ENSP00000345893.4:p.Gln326=
ENST00000377245.8:c.978_987delinsGATCTTCGTA	ENSP00000366453.4:p.Gln326=
ENST00000453658.6:c.909_918delinsGATCTTCGTA	ENSP00000392178.2:p.Gln303=
ENST00000535702.5:c.990_999delinsGATCTTCGTA	ENSP00000442090.1:p.Gln330=
ENST00000539225.1:c.1071_1080delinsGATCTTCGTA	ENSP00000438262.1:p.Gln357=
NM_001170414.2:c.909_918delinsGATCTTCGTA	NP_001163885.1:p.Gln303=
NM_001170415.1:c.990_999delinsGATCTTCGTA	NP_001163886.1:p.Gln330=
NM_001170416.1:c.1071_1080delinsGATCTTCGTA	NP_001163887.1:p.Gln357=
NM_001170630.1:c.978_987delinsGATCTTCGTA	NP_001164101.1:p.Gln326=
NM_004817.3:c.978_987delinsGATCTTCGTA	NP_004808.2:p.Gln326=
NM_201629.3:c.978_987delinsGATCTTCGTA	NP_963923.1:p.Gln326=
XM_005252314.1:c.990_999delinsGATCTTCGTA	XP_005252371.1:p.Gln330=
XM_006717324.2:c.972_981delinsGATCTTCGTA	XP_006717387.1:p.Gln324=
XM_011519204.1:c.909_918delinsGATCTTCGTA	XP_011517506.1:p.Gln303=
XM_011519205.1:c.909_918delinsGATCTTCGTA	XP_011517507.1:p.Gln303=
XM_011519206.1:c.909_918delinsGATCTTCGTA	XP_011517508.1:p.Gln303=
XM_011519207.1:c.909_918delinsGATCTTCGTA	XP_011517509.1:p.Gln303=
XM_011519208.1:c.909_918delinsGATCTTCGTA	XP_011517510.1:p.Gln303=
XM_011519209.1:c.909_918delinsGATCTTCGTA	XP_011517511.1:p.Gln303=
NM_004817.4:c.978_987delinsGATCTTCGTA MANE Select	NP_004808.2:p.Gln326=
XM_005252314.2:c.990_999delinsGATCTTCGTA	XP_005252371.1:p.Gln330=
XM_011519206.2:c.909_918delinsGATCTTCGTA	XP_011517508.1:p.Gln303=
XM_011519207.2:c.909_918delinsGATCTTCGTA	XP_011517509.1:p.Gln303=
XM_011519208.2:c.909_918delinsGATCTTCGTA	XP_011517510.1:p.Gln303=
XM_011519209.2:c.909_918delinsGATCTTCGTA	XP_011517511.1:p.Gln303=
XM_017015327.2:c.978_987delinsGATCTTCGTA	XP_016870816.1:p.Gln326=
XM_017015328.1:c.990_999delinsGATCTTCGTA	XP_016870817.1:p.Gln330=
NM_001170416.2:c.1071_1080delinsGATCTTCGTA	NP_001163887.1:p.Gln357=
NM_001369870.1:c.909_918delinsGATCTTCGTA	NP_001356799.1:p.Gln303=
NM_001369871.1:c.909_918delinsGATCTTCGTA	NP_001356800.1:p.Gln303=
NM_001369872.1:c.978_987delinsGATCTTCGTA	NP_001356801.1:p.Gln326=
NM_001369873.1:c.978_987delinsGATCTTCGTA	NP_001356802.1:p.Gln326=
NM_001369874.1:c.990_999delinsGATCTTCGTA	NP_001356803.1:p.Gln330=
NM_001369875.1:c.990_999delinsGATCTTCGTA	NP_001356804.1:p.Gln330=