Canonical Allele Identifier: CA193381452

Gene: TJP2

Linked Data

• ClinVar Variation Id: 1315030
• ClinVar RCV Id: RCV001773224
• dbSNP Id: rs1014295697
• gnomAD v4: 9-69246768-C-A
• COSMIC: COSM343160
• MyVariant Identifiers: chr9:g.71861684C>A (hg19) ; chr9:g.69246768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69246768C>A , CM000671.2:g.69246768C>A	GRCh38
NC_000009.11:g.71861684C>A , CM000671.1:g.71861684C>A	GRCh37
NC_000009.10:g.71051504C>A	NCBI36
NG_016342.1:g.130461C>A
NG_016342.2:g.150862C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000348208.9:c.2645C>A	ENSP00000345893.4:p.Ala882Glu
ENST00000377245.9:c.2645C>A MANE Select	ENSP00000366453.4:p.Ala882Glu
ENST00000498204.2:n.2082C>A
ENST00000535702.6:c.2657C>A	ENSP00000442090.1:p.Ala886Glu
ENST00000539225.2:c.2738C>A	ENSP00000438262.1:p.Ala913Glu
ENST00000636247.1:n.2724C>A
ENST00000636438.1:c.2822C>A	ENSP00000489860.1:p.Ala941Glu
ENST00000642889.1:c.3032C>A	ENSP00000493780.1:p.Ala1011Glu
ENST00000643352.1:c.*2833C>A	ENSP00000496488.1:n.*2833C>A
ENST00000645088.1:c.*2952C>A	ENSP00000495447.1:n.*2952C>A
ENST00000648042.1:c.1354C>A
ENST00000648087.1:n.2955C>A
ENST00000649114.1:c.2645C>A	ENSP00000497328.1:p.Ala882Glu
ENST00000649134.1:c.2657C>A	ENSP00000498068.1:p.Ala886Glu
ENST00000649783.1:n.2669C>A
ENST00000649927.1:n.190C>A
ENST00000649943.1:c.2645C>A	ENSP00000497539.1:p.Ala882Glu
ENST00000650084.1:c.2648C>A	ENSP00000497861.1:p.Ala883Glu
ENST00000650333.1:c.2576C>A	ENSP00000496791.1:p.Ala859Glu
ENST00000650460.1:c.1840-6047C>A
ENST00000650522.1:n.2168C>A
ENST00000265384.11:c.2645C>A	ENSP00000265384.7:p.Ala882Glu
ENST00000348208.8:c.2645C>A	ENSP00000345893.4:p.Ala882Glu
ENST00000377245.8:c.2645C>A	ENSP00000366453.4:p.Ala882Glu
ENST00000453658.6:c.2576C>A	ENSP00000392178.2:p.Ala859Glu
ENST00000498204.1:n.543C>A
ENST00000535702.5:c.2657C>A	ENSP00000442090.1:p.Ala886Glu
ENST00000539225.1:c.2738C>A	ENSP00000438262.1:p.Ala913Glu
NM_001170414.2:c.2576C>A	NP_001163885.1:p.Ala859Glu
NM_001170415.1:c.2657C>A	NP_001163886.1:p.Ala886Glu
NM_001170416.1:c.2738C>A	NP_001163887.1:p.Ala913Glu
NM_001170630.1:c.2645C>A	NP_001164101.1:p.Ala882Glu
NM_004817.3:c.2645C>A	NP_004808.2:p.Ala882Glu
NM_201629.3:c.2645C>A	NP_963923.1:p.Ala882Glu
XM_005252314.1:c.2657C>A	XP_005252371.1:p.Ala886Glu
XM_006717324.2:c.2639C>A	XP_006717387.1:p.Ala880Glu
XM_011519204.1:c.2576C>A	XP_011517506.1:p.Ala859Glu
XM_011519205.1:c.2576C>A	XP_011517507.1:p.Ala859Glu
XM_011519206.1:c.2576C>A	XP_011517508.1:p.Ala859Glu
XM_011519207.1:c.2576C>A	XP_011517509.1:p.Ala859Glu
XM_011519208.1:c.2576C>A	XP_011517510.1:p.Ala859Glu
XM_011519209.1:c.2576C>A	XP_011517511.1:p.Ala859Glu
NM_004817.4:c.2645C>A MANE Select	NP_004808.2:p.Ala882Glu
XM_005252314.2:c.2657C>A	XP_005252371.1:p.Ala886Glu
XM_011519206.2:c.2576C>A	XP_011517508.1:p.Ala859Glu
XM_011519207.2:c.2576C>A	XP_011517509.1:p.Ala859Glu
XM_011519208.2:c.2576C>A	XP_011517510.1:p.Ala859Glu
XM_011519209.2:c.2576C>A	XP_011517511.1:p.Ala859Glu
XM_017015327.2:c.2645C>A	XP_016870816.1:p.Ala882Glu
XM_017015328.1:c.2657C>A	XP_016870817.1:p.Ala886Glu
NM_001170416.2:c.2738C>A	NP_001163887.1:p.Ala913Glu
NM_001369870.1:c.2570C>A	NP_001356799.1:p.Ala857Glu
NM_001369871.1:c.2576C>A	NP_001356800.1:p.Ala859Glu
NM_001369872.1:c.2645C>A	NP_001356801.1:p.Ala882Glu
NM_001369873.1:c.2645C>A	NP_001356802.1:p.Ala882Glu
NM_001369874.1:c.2657C>A	NP_001356803.1:p.Ala886Glu
NM_001369875.1:c.2657C>A	NP_001356804.1:p.Ala886Glu