Canonical Allele Identifier: CA373525851

Gene: TJP2

Linked Data

• MyVariant Identifiers: chr9:g.71831258T>C (hg19) ; chr9:g.69216342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69216342T>C , CM000671.2:g.69216342T>C	GRCh38
NC_000009.11:g.71831258T>C , CM000671.1:g.71831258T>C	GRCh37
NC_000009.10:g.71021078T>C	NCBI36
NG_016342.1:g.100035T>C
NG_016342.2:g.120436T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.118T>C	ENSP00000345893.4:p.Ser40Pro
ENST00000377245.9:c.118T>C MANE Select	ENSP00000366453.4:p.Ser40Pro
ENST00000423935.6:c.49T>C	ENSP00000402941.1:p.Ser17Pro
ENST00000535702.6:c.130T>C	ENSP00000442090.1:p.Ser44Pro
ENST00000539225.2:c.211T>C	ENSP00000438262.1:p.Ser71Pro
ENST00000636247.1:n.197T>C
ENST00000636438.1:c.295T>C	ENSP00000489860.1:p.Ser99Pro
ENST00000642889.1:c.505T>C	ENSP00000493780.1:p.Ser169Pro
ENST00000643352.1:c.*306T>C	ENSP00000496488.1:n.*306T>C
ENST00000643765.1:c.820T>C
ENST00000645088.1:c.*425T>C	ENSP00000495447.1:n.*425T>C
ENST00000647986.1:c.49T>C	ENSP00000496877.1:p.Ser17Pro
ENST00000648087.1:n.435T>C
ENST00000648402.1:c.49T>C	ENSP00000497596.1:p.Ser17Pro
ENST00000649114.1:c.118T>C	ENSP00000497328.1:p.Ser40Pro
ENST00000649134.1:c.130T>C	ENSP00000498068.1:p.Ser44Pro
ENST00000649783.1:n.142T>C
ENST00000649939.1:c.49T>C	ENSP00000498043.1:p.Ser17Pro
ENST00000649943.1:c.118T>C	ENSP00000497539.1:p.Ser40Pro
ENST00000650084.1:c.121T>C	ENSP00000497861.1:p.Ser41Pro
ENST00000650333.1:c.49T>C	ENSP00000496791.1:p.Ser17Pro
ENST00000650378.1:n.146T>C
ENST00000650522.1:n.142T>C
ENST00000265384.11:c.118T>C	ENSP00000265384.7:p.Ser40Pro
ENST00000348208.8:c.118T>C	ENSP00000345893.4:p.Ser40Pro
ENST00000377245.8:c.118T>C	ENSP00000366453.4:p.Ser40Pro
ENST00000377259.5:c.49T>C	ENSP00000366469.1:p.Ser17Pro
ENST00000423935.5:c.49T>C	ENSP00000402941.1:p.Ser17Pro
ENST00000453658.6:c.49T>C	ENSP00000392178.2:p.Ser17Pro
ENST00000535702.5:c.130T>C	ENSP00000442090.1:p.Ser44Pro
ENST00000539225.1:c.211T>C	ENSP00000438262.1:p.Ser71Pro
ENST00000606364.5:c.49T>C	ENSP00000475926.1:p.Ser17Pro
NM_001170414.2:c.49T>C	NP_001163885.1:p.Ser17Pro
NM_001170415.1:c.130T>C	NP_001163886.1:p.Ser44Pro
NM_001170416.1:c.211T>C	NP_001163887.1:p.Ser71Pro
NM_001170630.1:c.118T>C	NP_001164101.1:p.Ser40Pro
NM_004817.3:c.118T>C	NP_004808.2:p.Ser40Pro
NM_201629.3:c.118T>C	NP_963923.1:p.Ser40Pro
XM_005252314.1:c.130T>C	XP_005252371.1:p.Ser44Pro
XM_006717324.2:c.112T>C	XP_006717387.1:p.Ser38Pro
XM_011519204.1:c.49T>C	XP_011517506.1:p.Ser17Pro
XM_011519205.1:c.49T>C	XP_011517507.1:p.Ser17Pro
XM_011519206.1:c.49T>C	XP_011517508.1:p.Ser17Pro
XM_011519207.1:c.49T>C	XP_011517509.1:p.Ser17Pro
XM_011519208.1:c.49T>C	XP_011517510.1:p.Ser17Pro
XM_011519209.1:c.49T>C	XP_011517511.1:p.Ser17Pro
NM_004817.4:c.118T>C MANE Select	NP_004808.2:p.Ser40Pro
XM_005252314.2:c.130T>C	XP_005252371.1:p.Ser44Pro
XM_011519206.2:c.49T>C	XP_011517508.1:p.Ser17Pro
XM_011519207.2:c.49T>C	XP_011517509.1:p.Ser17Pro
XM_011519208.2:c.49T>C	XP_011517510.1:p.Ser17Pro
XM_011519209.2:c.49T>C	XP_011517511.1:p.Ser17Pro
XM_017015327.2:c.118T>C	XP_016870816.1:p.Ser40Pro
XM_017015328.1:c.130T>C	XP_016870817.1:p.Ser44Pro
NM_001170416.2:c.211T>C	NP_001163887.1:p.Ser71Pro
NM_001369870.1:c.49T>C	NP_001356799.1:p.Ser17Pro
NM_001369871.1:c.49T>C	NP_001356800.1:p.Ser17Pro
NM_001369872.1:c.118T>C	NP_001356801.1:p.Ser40Pro
NM_001369873.1:c.118T>C	NP_001356802.1:p.Ser40Pro
NM_001369874.1:c.130T>C	NP_001356803.1:p.Ser44Pro
NM_001369875.1:c.130T>C	NP_001356804.1:p.Ser44Pro