Canonical Allele Identifier: CA373530197
Gene: TJP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69225325G>T , CM000671.2:g.69225325G>T GRCh38
NC_000009.11:g.71840241G>T , CM000671.1:g.71840241G>T GRCh37
NC_000009.10:g.71030061G>T NCBI36
NG_016342.1:g.109018G>T
NG_016342.2:g.129419G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000348208.9:c.974G>T ENSP00000345893.4:p.Ser325Ile
ENST00000377245.9:c.974G>T MANE Select ENSP00000366453.4:p.Ser325Ile
ENST00000535702.6:c.986G>T ENSP00000442090.1:p.Ser329Ile
ENST00000539225.2:c.1067G>T ENSP00000438262.1:p.Ser356Ile
ENST00000636247.1:n.1053G>T
ENST00000636438.1:c.1151G>T ENSP00000489860.1:p.Ser384Ile
ENST00000642889.1:c.1361G>T ENSP00000493780.1:p.Ser454Ile
ENST00000643352.1:c.*1162G>T ENSP00000496488.1:n.*1162G>T
ENST00000645088.1:c.*1281G>T ENSP00000495447.1:n.*1281G>T
ENST00000647986.1:c.905G>T ENSP00000496877.1:p.Ser302Ile
ENST00000648087.1:n.1291G>T
ENST00000648153.1:n.117G>T
ENST00000648862.1:n.186G>T
ENST00000649114.1:c.974G>T ENSP00000497328.1:p.Ser325Ile
ENST00000649134.1:c.986G>T ENSP00000498068.1:p.Ser329Ile
ENST00000649783.1:n.998G>T
ENST00000649943.1:c.974G>T ENSP00000497539.1:p.Ser325Ile
ENST00000650084.1:c.977G>T ENSP00000497861.1:p.Ser326Ile
ENST00000650333.1:c.905G>T ENSP00000496791.1:p.Ser302Ile
ENST00000650460.1:c.247G>T
ENST00000650522.1:n.976+3829G>T
ENST00000265384.11:c.974G>T ENSP00000265384.7:p.Ser325Ile
ENST00000348208.8:c.974G>T ENSP00000345893.4:p.Ser325Ile
ENST00000377245.8:c.974G>T ENSP00000366453.4:p.Ser325Ile
ENST00000453658.6:c.905G>T ENSP00000392178.2:p.Ser302Ile
ENST00000535702.5:c.986G>T ENSP00000442090.1:p.Ser329Ile
ENST00000539225.1:c.1067G>T ENSP00000438262.1:p.Ser356Ile
NM_001170414.2:c.905G>T NP_001163885.1:p.Ser302Ile
NM_001170415.1:c.986G>T NP_001163886.1:p.Ser329Ile
NM_001170416.1:c.1067G>T NP_001163887.1:p.Ser356Ile
NM_001170630.1:c.974G>T NP_001164101.1:p.Ser325Ile
NM_004817.3:c.974G>T NP_004808.2:p.Ser325Ile
NM_201629.3:c.974G>T NP_963923.1:p.Ser325Ile
XM_005252314.1:c.986G>T XP_005252371.1:p.Ser329Ile
XM_006717324.2:c.968G>T XP_006717387.1:p.Ser323Ile
XM_011519204.1:c.905G>T XP_011517506.1:p.Ser302Ile
XM_011519205.1:c.905G>T XP_011517507.1:p.Ser302Ile
XM_011519206.1:c.905G>T XP_011517508.1:p.Ser302Ile
XM_011519207.1:c.905G>T XP_011517509.1:p.Ser302Ile
XM_011519208.1:c.905G>T XP_011517510.1:p.Ser302Ile
XM_011519209.1:c.905G>T XP_011517511.1:p.Ser302Ile
NM_004817.4:c.974G>T MANE Select NP_004808.2:p.Ser325Ile
XM_005252314.2:c.986G>T XP_005252371.1:p.Ser329Ile
XM_011519206.2:c.905G>T XP_011517508.1:p.Ser302Ile
XM_011519207.2:c.905G>T XP_011517509.1:p.Ser302Ile
XM_011519208.2:c.905G>T XP_011517510.1:p.Ser302Ile
XM_011519209.2:c.905G>T XP_011517511.1:p.Ser302Ile
XM_017015327.2:c.974G>T XP_016870816.1:p.Ser325Ile
XM_017015328.1:c.986G>T XP_016870817.1:p.Ser329Ile
NM_001170416.2:c.1067G>T NP_001163887.1:p.Ser356Ile
NM_001369870.1:c.905G>T NP_001356799.1:p.Ser302Ile
NM_001369871.1:c.905G>T NP_001356800.1:p.Ser302Ile
NM_001369872.1:c.974G>T NP_001356801.1:p.Ser325Ile
NM_001369873.1:c.974G>T NP_001356802.1:p.Ser325Ile
NM_001369874.1:c.986G>T NP_001356803.1:p.Ser329Ile
NM_001369875.1:c.986G>T NP_001356804.1:p.Ser329Ile