Canonical Allele Identifier: CA347936

Gene: TJP2

Linked Data

• ClinVar Variation Id: 219195
• ClinVar RCV Id: RCV000203578
• dbSNP Id: rs864321695
• MyVariant Identifiers: chr9:g.71862927G>T (hg19) ; chr9:g.69248011G>T (hg38)
• PubMed: PMID:25921221

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69248011G>T , CM000671.2:g.69248011G>T	GRCh38
NC_000009.11:g.71862927G>T , CM000671.1:g.71862927G>T	GRCh37
NC_000009.10:g.71052747G>T	NCBI36
NG_016342.1:g.131704G>T
NG_016342.2:g.152105G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000348208.9:c.2668-1G>T	ENSP00000345893.4:n.2668-1G>T
ENST00000377245.9:c.2668-1G>T MANE Select	ENSP00000366453.4:n.2668-1G>T
ENST00000498204.2:n.2105-1G>T
ENST00000535702.6:c.2680-1G>T	ENSP00000442090.1:n.2680-1G>T
ENST00000539225.2:c.2761-1G>T	ENSP00000438262.1:n.2761-1G>T
ENST00000636247.1:n.2747-1G>T
ENST00000636438.1:c.2845-1G>T	ENSP00000489860.1:n.2845-1G>T
ENST00000642889.1:c.3055-1G>T	ENSP00000493780.1:n.3055-1G>T
ENST00000643352.1:c.*2856-1G>T	ENSP00000496488.1:n.*2856-1G>T
ENST00000645088.1:c.*2975-1G>T	ENSP00000495447.1:n.*2975-1G>T
ENST00000648042.1:c.1376+1221G>T
ENST00000648087.1:n.4198G>T
ENST00000649114.1:c.2668-1G>T	ENSP00000497328.1:n.2668-1G>T
ENST00000649134.1:c.2680-1G>T	ENSP00000498068.1:n.2680-1G>T
ENST00000649783.1:n.2692-1G>T
ENST00000649927.1:n.213-1G>T
ENST00000649943.1:c.2668-1G>T	ENSP00000497539.1:n.2668-1G>T
ENST00000650084.1:c.2671-1G>T	ENSP00000497861.1:n.2671-1G>T
ENST00000650333.1:c.2599-1G>T	ENSP00000496791.1:n.2599-1G>T
ENST00000650353.1:n.373G>T
ENST00000650460.1:c.1840-4804G>T
ENST00000650522.1:n.2191-1G>T
ENST00000265384.11:c.2668-1G>T	ENSP00000265384.7:n.2668-1G>T
ENST00000348208.8:c.2668-1G>T	ENSP00000345893.4:n.2668-1G>T
ENST00000377245.8:c.2668-1G>T	ENSP00000366453.4:n.2668-1G>T
ENST00000453658.6:c.2599-1G>T	ENSP00000392178.2:n.2599-1G>T
ENST00000498204.1:n.566-1G>T
ENST00000535702.5:c.2680-1G>T	ENSP00000442090.1:n.2680-1G>T
ENST00000539225.1:c.2761-1G>T	ENSP00000438262.1:n.2761-1G>T
NM_001170414.2:c.2599-1G>T	NP_001163885.1:n.2599-1G>T
NM_001170415.1:c.2680-1G>T	NP_001163886.1:n.2680-1G>T
NM_001170416.1:c.2761-1G>T	NP_001163887.1:n.2761-1G>T
NM_001170630.1:c.2668-1G>T	NP_001164101.1:n.2668-1G>T
NM_004817.3:c.2668-1G>T	NP_004808.2:n.2668-1G>T
NM_201629.3:c.2668-1G>T	NP_963923.1:n.2668-1G>T
XM_005252314.1:c.2680-1G>T	XP_005252371.1:n.2680-1G>T
XM_006717324.2:c.2662-1G>T	XP_006717387.1:n.2662-1G>T
XM_011519204.1:c.2599-1G>T	XP_011517506.1:n.2599-1G>T
XM_011519205.1:c.2599-1G>T	XP_011517507.1:n.2599-1G>T
XM_011519206.1:c.2599-1G>T	XP_011517508.1:n.2599-1G>T
XM_011519207.1:c.2599-1G>T	XP_011517509.1:n.2599-1G>T
XM_011519208.1:c.2599-1G>T	XP_011517510.1:n.2599-1G>T
XM_011519209.1:c.2599-1G>T	XP_011517511.1:n.2599-1G>T
NM_004817.4:c.2668-1G>T MANE Select	NP_004808.2:n.2668-1G>T
XM_005252314.2:c.2680-1G>T	XP_005252371.1:n.2680-1G>T
XM_011519206.2:c.2599-1G>T	XP_011517508.1:n.2599-1G>T
XM_011519207.2:c.2599-1G>T	XP_011517509.1:n.2599-1G>T
XM_011519208.2:c.2599-1G>T	XP_011517510.1:n.2599-1G>T
XM_011519209.2:c.2599-1G>T	XP_011517511.1:n.2599-1G>T
XM_017015327.2:c.2668-1G>T	XP_016870816.1:n.2668-1G>T
XM_017015328.1:c.2680-1G>T	XP_016870817.1:n.2680-1G>T
NM_001170416.2:c.2761-1G>T	NP_001163887.1:n.2761-1G>T
NM_001369870.1:c.2593-1G>T	NP_001356799.1:n.2593-1G>T
NM_001369871.1:c.2599-1G>T	NP_001356800.1:n.2599-1G>T
NM_001369872.1:c.2668-1G>T	NP_001356801.1:n.2668-1G>T
NM_001369873.1:c.2667+1221G>T	NP_001356802.1:n.2667+1221G>T
NM_001369874.1:c.2680-1G>T	NP_001356803.1:n.2680-1G>T
NM_001369875.1:c.2680-1G>T	NP_001356804.1:n.2680-1G>T