Canonical Allele Identifier: CA178161

Gene: TJP2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69216409C>T , CM000671.2:g.69216409C>T	GRCh38
NC_000009.11:g.71831325C>T , CM000671.1:g.71831325C>T	GRCh37
NC_000009.10:g.71021145C>T	NCBI36
NG_016342.1:g.100102C>T
NG_016342.2:g.120503C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004817.4:c.185C>T MANE Select	NP_004808.2:p.Thr62Met
ENST00000377245.9:c.185C>T MANE Select	ENSP00000366453.4:p.Thr62Met
NM_001170414.2:c.116C>T	NP_001163885.1:p.Thr39Met
NM_001170415.1:c.197C>T	NP_001163886.1:p.Thr66Met
NM_001170416.1:c.278C>T	NP_001163887.1:p.Thr93Met
NM_001170416.2:c.278C>T	NP_001163887.1:p.Thr93Met
NM_001170630.1:c.185C>T	NP_001164101.1:p.Thr62Met
NM_001369870.1:c.116C>T	NP_001356799.1:p.Thr39Met
NM_001369871.1:c.116C>T	NP_001356800.1:p.Thr39Met
NM_001369872.1:c.185C>T	NP_001356801.1:p.Thr62Met
NM_001369873.1:c.185C>T	NP_001356802.1:p.Thr62Met
NM_001369874.1:c.197C>T	NP_001356803.1:p.Thr66Met
NM_001369875.1:c.197C>T	NP_001356804.1:p.Thr66Met
NM_004817.3:c.185C>T	NP_004808.2:p.Thr62Met
NM_201629.3:c.185C>T	NP_963923.1:p.Thr62Met
ENST00000265384.11:c.185C>T	ENSP00000265384.7:p.Thr62Met
ENST00000348208.8:c.185C>T	ENSP00000345893.4:p.Thr62Met
ENST00000348208.9:c.185C>T	ENSP00000345893.4:p.Thr62Met
ENST00000377245.8:c.185C>T	ENSP00000366453.4:p.Thr62Met
ENST00000377259.5:c.116C>T	ENSP00000366469.1:p.Thr39Met
ENST00000423935.5:c.116C>T	ENSP00000402941.1:p.Thr39Met
ENST00000423935.6:c.116C>T	ENSP00000402941.1:p.Thr39Met
ENST00000453658.6:c.116C>T	ENSP00000392178.2:p.Thr39Met
ENST00000535702.5:c.197C>T	ENSP00000442090.1:p.Thr66Met
ENST00000535702.6:c.197C>T	ENSP00000442090.1:p.Thr66Met
ENST00000539225.1:c.278C>T	ENSP00000438262.1:p.Thr93Met
ENST00000539225.2:c.278C>T	ENSP00000438262.1:p.Thr93Met
ENST00000606364.5:c.116C>T	ENSP00000475926.1:p.Thr39Met
ENST00000636247.1:n.264C>T
ENST00000636438.1:c.362C>T	ENSP00000489860.1:p.Thr121Met
ENST00000642889.1:c.572C>T	ENSP00000493780.1:p.Thr191Met
ENST00000643352.1:c.*373C>T	ENSP00000496488.1:n.*373C>T
ENST00000645088.1:c.*492C>T	ENSP00000495447.1:n.*492C>T
ENST00000647986.1:c.116C>T	ENSP00000496877.1:p.Thr39Met
ENST00000648087.1:n.502C>T
ENST00000648402.1:c.116C>T	ENSP00000497596.1:p.Thr39Met
ENST00000649114.1:c.185C>T	ENSP00000497328.1:p.Thr62Met
ENST00000649134.1:c.197C>T	ENSP00000498068.1:p.Thr66Met
ENST00000649783.1:n.209C>T
ENST00000649939.1:c.116C>T	ENSP00000498043.1:p.Thr39Met
ENST00000649943.1:c.185C>T	ENSP00000497539.1:p.Thr62Met
ENST00000650084.1:c.188C>T	ENSP00000497861.1:p.Thr63Met
ENST00000650333.1:c.116C>T	ENSP00000496791.1:p.Thr39Met
ENST00000650378.1:n.213C>T
ENST00000650522.1:n.209C>T
XM_005252314.1:c.197C>T	XP_005252371.1:p.Thr66Met
XM_005252314.2:c.197C>T	XP_005252371.1:p.Thr66Met
XM_006717324.2:c.179C>T	XP_006717387.1:p.Thr60Met
XM_011519204.1:c.116C>T	XP_011517506.1:p.Thr39Met
XM_011519205.1:c.116C>T	XP_011517507.1:p.Thr39Met
XM_011519206.1:c.116C>T	XP_011517508.1:p.Thr39Met
XM_011519206.2:c.116C>T	XP_011517508.1:p.Thr39Met
XM_011519207.1:c.116C>T	XP_011517509.1:p.Thr39Met
XM_011519207.2:c.116C>T	XP_011517509.1:p.Thr39Met
XM_011519208.1:c.116C>T	XP_011517510.1:p.Thr39Met
XM_011519208.2:c.116C>T	XP_011517510.1:p.Thr39Met
XM_011519209.1:c.116C>T	XP_011517511.1:p.Thr39Met
XM_011519209.2:c.116C>T	XP_011517511.1:p.Thr39Met
XM_017015327.2:c.185C>T	XP_016870816.1:p.Thr62Met
XM_017015328.1:c.197C>T	XP_016870817.1:p.Thr66Met