Canonical Allele Identifier: CA465254212

Gene: TJP2

Linked Data

• MyVariant Identifiers: chr9:g.71861688T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69246772T>C , CM000671.2:g.69246772T>C	GRCh38
NC_000009.11:g.71861688T>C , CM000671.1:g.71861688T>C	GRCh37
NC_000009.10:g.71051508T>C	NCBI36
NG_016342.1:g.130465T>C
NG_016342.2:g.150866T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000348208.9:c.2649T>C	ENSP00000345893.4:p.Val883=
ENST00000377245.9:c.2649T>C MANE Select	ENSP00000366453.4:p.Val883=
ENST00000498204.2:n.2086T>C
ENST00000535702.6:c.2661T>C	ENSP00000442090.1:p.Val887=
ENST00000539225.2:c.2742T>C	ENSP00000438262.1:p.Val914=
ENST00000636247.1:n.2728T>C
ENST00000636438.1:c.2826T>C	ENSP00000489860.1:p.Val942=
ENST00000642889.1:c.3036T>C	ENSP00000493780.1:p.Val1012=
ENST00000643352.1:c.*2837T>C	ENSP00000496488.1:n.*2837T>C
ENST00000645088.1:c.*2956T>C	ENSP00000495447.1:n.*2956T>C
ENST00000648042.1:c.1358T>C
ENST00000648087.1:n.2959T>C
ENST00000649114.1:c.2649T>C	ENSP00000497328.1:p.Val883=
ENST00000649134.1:c.2661T>C	ENSP00000498068.1:p.Val887=
ENST00000649783.1:n.2673T>C
ENST00000649927.1:n.194T>C
ENST00000649943.1:c.2649T>C	ENSP00000497539.1:p.Val883=
ENST00000650084.1:c.2652T>C	ENSP00000497861.1:p.Val884=
ENST00000650333.1:c.2580T>C	ENSP00000496791.1:p.Val860=
ENST00000650460.1:c.1840-6043T>C
ENST00000650522.1:n.2172T>C
ENST00000265384.11:c.2649T>C	ENSP00000265384.7:p.Val883=
ENST00000348208.8:c.2649T>C	ENSP00000345893.4:p.Val883=
ENST00000377245.8:c.2649T>C	ENSP00000366453.4:p.Val883=
ENST00000453658.6:c.2580T>C	ENSP00000392178.2:p.Val860=
ENST00000498204.1:n.547T>C
ENST00000535702.5:c.2661T>C	ENSP00000442090.1:p.Val887=
ENST00000539225.1:c.2742T>C	ENSP00000438262.1:p.Val914=
NM_001170414.2:c.2580T>C	NP_001163885.1:p.Val860=
NM_001170415.1:c.2661T>C	NP_001163886.1:p.Val887=
NM_001170416.1:c.2742T>C	NP_001163887.1:p.Val914=
NM_001170630.1:c.2649T>C	NP_001164101.1:p.Val883=
NM_004817.3:c.2649T>C	NP_004808.2:p.Val883=
NM_201629.3:c.2649T>C	NP_963923.1:p.Val883=
XM_005252314.1:c.2661T>C	XP_005252371.1:p.Val887=
XM_006717324.2:c.2643T>C	XP_006717387.1:p.Val881=
XM_011519204.1:c.2580T>C	XP_011517506.1:p.Val860=
XM_011519205.1:c.2580T>C	XP_011517507.1:p.Val860=
XM_011519206.1:c.2580T>C	XP_011517508.1:p.Val860=
XM_011519207.1:c.2580T>C	XP_011517509.1:p.Val860=
XM_011519208.1:c.2580T>C	XP_011517510.1:p.Val860=
XM_011519209.1:c.2580T>C	XP_011517511.1:p.Val860=
NM_004817.4:c.2649T>C MANE Select	NP_004808.2:p.Val883=
XM_005252314.2:c.2661T>C	XP_005252371.1:p.Val887=
XM_011519206.2:c.2580T>C	XP_011517508.1:p.Val860=
XM_011519207.2:c.2580T>C	XP_011517509.1:p.Val860=
XM_011519208.2:c.2580T>C	XP_011517510.1:p.Val860=
XM_011519209.2:c.2580T>C	XP_011517511.1:p.Val860=
XM_017015327.2:c.2649T>C	XP_016870816.1:p.Val883=
XM_017015328.1:c.2661T>C	XP_016870817.1:p.Val887=
NM_001170416.2:c.2742T>C	NP_001163887.1:p.Val914=
NM_001369870.1:c.2574T>C	NP_001356799.1:p.Val858=
NM_001369871.1:c.2580T>C	NP_001356800.1:p.Val860=
NM_001369872.1:c.2649T>C	NP_001356801.1:p.Val883=
NM_001369873.1:c.2649T>C	NP_001356802.1:p.Val883=
NM_001369874.1:c.2661T>C	NP_001356803.1:p.Val887=
NM_001369875.1:c.2661T>C	NP_001356804.1:p.Val887=