Canonical Allele Identifier: CA5073159

Gene: TJP2

Linked Data

• dbSNP Id: rs375470616
• ExAC: 9:71840253 T / A
• gnomAD v2: 9-71840253-T-A
• gnomAD v3: 9-69225337-T-A
• gnomAD v4: 9-69225337-T-A
• MyVariant Identifiers: chr9:g.71840253T>A (hg19) ; chr9:g.71840253_71840254delinsAA (hg19) ; chr9:g.69225337T>A (hg38) ; chr9:g.69225337_69225338delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69225337T>A , CM000671.2:g.69225337T>A	GRCh38
NC_000009.11:g.71840253T>A , CM000671.1:g.71840253T>A	GRCh37
NC_000009.10:g.71030073T>A	NCBI36
NG_016342.1:g.109030T>A
NG_016342.2:g.129431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.986T>A	ENSP00000345893.4:p.Val329Glu
ENST00000377245.9:c.986T>A MANE Select	ENSP00000366453.4:p.Val329Glu
ENST00000535702.6:c.998T>A	ENSP00000442090.1:p.Val333Glu
ENST00000539225.2:c.1079T>A	ENSP00000438262.1:p.Val360Glu
ENST00000636247.1:n.1065T>A
ENST00000636438.1:c.1163T>A	ENSP00000489860.1:p.Val388Glu
ENST00000642889.1:c.1373T>A	ENSP00000493780.1:p.Val458Glu
ENST00000643352.1:c.*1174T>A	ENSP00000496488.1:n.*1174T>A
ENST00000645088.1:c.*1293T>A	ENSP00000495447.1:n.*1293T>A
ENST00000647986.1:c.917T>A	ENSP00000496877.1:p.Val306Glu
ENST00000648087.1:n.1303T>A
ENST00000648153.1:n.129T>A
ENST00000648862.1:n.198T>A
ENST00000649114.1:c.986T>A	ENSP00000497328.1:p.Val329Glu
ENST00000649134.1:c.998T>A	ENSP00000498068.1:p.Val333Glu
ENST00000649783.1:n.1010T>A
ENST00000649943.1:c.986T>A	ENSP00000497539.1:p.Val329Glu
ENST00000650084.1:c.989T>A	ENSP00000497861.1:p.Val330Glu
ENST00000650333.1:c.917T>A	ENSP00000496791.1:p.Val306Glu
ENST00000650460.1:c.259T>A
ENST00000650522.1:n.976+3841T>A
ENST00000265384.11:c.986T>A	ENSP00000265384.7:p.Val329Glu
ENST00000348208.8:c.986T>A	ENSP00000345893.4:p.Val329Glu
ENST00000377245.8:c.986T>A	ENSP00000366453.4:p.Val329Glu
ENST00000453658.6:c.917T>A	ENSP00000392178.2:p.Val306Glu
ENST00000535702.5:c.998T>A	ENSP00000442090.1:p.Val333Glu
ENST00000539225.1:c.1079T>A	ENSP00000438262.1:p.Val360Glu
NM_001170414.2:c.917T>A	NP_001163885.1:p.Val306Glu
NM_001170415.1:c.998T>A	NP_001163886.1:p.Val333Glu
NM_001170416.1:c.1079T>A	NP_001163887.1:p.Val360Glu
NM_001170630.1:c.986T>A	NP_001164101.1:p.Val329Glu
NM_004817.3:c.986T>A	NP_004808.2:p.Val329Glu
NM_201629.3:c.986T>A	NP_963923.1:p.Val329Glu
XM_005252314.1:c.998T>A	XP_005252371.1:p.Val333Glu
XM_006717324.2:c.980T>A	XP_006717387.1:p.Val327Glu
XM_011519204.1:c.917T>A	XP_011517506.1:p.Val306Glu
XM_011519205.1:c.917T>A	XP_011517507.1:p.Val306Glu
XM_011519206.1:c.917T>A	XP_011517508.1:p.Val306Glu
XM_011519207.1:c.917T>A	XP_011517509.1:p.Val306Glu
XM_011519208.1:c.917T>A	XP_011517510.1:p.Val306Glu
XM_011519209.1:c.917T>A	XP_011517511.1:p.Val306Glu
NM_004817.4:c.986T>A MANE Select	NP_004808.2:p.Val329Glu
XM_005252314.2:c.998T>A	XP_005252371.1:p.Val333Glu
XM_011519206.2:c.917T>A	XP_011517508.1:p.Val306Glu
XM_011519207.2:c.917T>A	XP_011517509.1:p.Val306Glu
XM_011519208.2:c.917T>A	XP_011517510.1:p.Val306Glu
XM_011519209.2:c.917T>A	XP_011517511.1:p.Val306Glu
XM_017015327.2:c.986T>A	XP_016870816.1:p.Val329Glu
XM_017015328.1:c.998T>A	XP_016870817.1:p.Val333Glu
NM_001170416.2:c.1079T>A	NP_001163887.1:p.Val360Glu
NM_001369870.1:c.917T>A	NP_001356799.1:p.Val306Glu
NM_001369871.1:c.917T>A	NP_001356800.1:p.Val306Glu
NM_001369872.1:c.986T>A	NP_001356801.1:p.Val329Glu
NM_001369873.1:c.986T>A	NP_001356802.1:p.Val329Glu
NM_001369874.1:c.998T>A	NP_001356803.1:p.Val333Glu
NM_001369875.1:c.998T>A	NP_001356804.1:p.Val333Glu