Canonical Allele Identifier: CA373525931

Gene: TJP2

Linked Data

• MyVariant Identifiers: chr9:g.71831276A>C (hg19) ; chr9:g.69216360A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69216360A>C , CM000671.2:g.69216360A>C	GRCh38
NC_000009.11:g.71831276A>C , CM000671.1:g.71831276A>C	GRCh37
NC_000009.10:g.71021096A>C	NCBI36
NG_016342.1:g.100053A>C
NG_016342.2:g.120454A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.136A>C	ENSP00000345893.4:p.Ile46Leu
ENST00000377245.9:c.136A>C MANE Select	ENSP00000366453.4:p.Ile46Leu
ENST00000423935.6:c.67A>C	ENSP00000402941.1:p.Ile23Leu
ENST00000535702.6:c.148A>C	ENSP00000442090.1:p.Ile50Leu
ENST00000539225.2:c.229A>C	ENSP00000438262.1:p.Ile77Leu
ENST00000636247.1:n.215A>C
ENST00000636438.1:c.313A>C	ENSP00000489860.1:p.Ile105Leu
ENST00000642889.1:c.523A>C	ENSP00000493780.1:p.Ile175Leu
ENST00000643352.1:c.*324A>C	ENSP00000496488.1:n.*324A>C
ENST00000643765.1:c.838A>C
ENST00000645088.1:c.*443A>C	ENSP00000495447.1:n.*443A>C
ENST00000647986.1:c.67A>C	ENSP00000496877.1:p.Ile23Leu
ENST00000648087.1:n.453A>C
ENST00000648402.1:c.67A>C	ENSP00000497596.1:p.Ile23Leu
ENST00000649114.1:c.136A>C	ENSP00000497328.1:p.Ile46Leu
ENST00000649134.1:c.148A>C	ENSP00000498068.1:p.Ile50Leu
ENST00000649783.1:n.160A>C
ENST00000649939.1:c.67A>C	ENSP00000498043.1:p.Ile23Leu
ENST00000649943.1:c.136A>C	ENSP00000497539.1:p.Ile46Leu
ENST00000650084.1:c.139A>C	ENSP00000497861.1:p.Ile47Leu
ENST00000650333.1:c.67A>C	ENSP00000496791.1:p.Ile23Leu
ENST00000650378.1:n.164A>C
ENST00000650522.1:n.160A>C
ENST00000265384.11:c.136A>C	ENSP00000265384.7:p.Ile46Leu
ENST00000348208.8:c.136A>C	ENSP00000345893.4:p.Ile46Leu
ENST00000377245.8:c.136A>C	ENSP00000366453.4:p.Ile46Leu
ENST00000377259.5:c.67A>C	ENSP00000366469.1:p.Ile23Leu
ENST00000423935.5:c.67A>C	ENSP00000402941.1:p.Ile23Leu
ENST00000453658.6:c.67A>C	ENSP00000392178.2:p.Ile23Leu
ENST00000535702.5:c.148A>C	ENSP00000442090.1:p.Ile50Leu
ENST00000539225.1:c.229A>C	ENSP00000438262.1:p.Ile77Leu
ENST00000606364.5:c.67A>C	ENSP00000475926.1:p.Ile23Leu
NM_001170414.2:c.67A>C	NP_001163885.1:p.Ile23Leu
NM_001170415.1:c.148A>C	NP_001163886.1:p.Ile50Leu
NM_001170416.1:c.229A>C	NP_001163887.1:p.Ile77Leu
NM_001170630.1:c.136A>C	NP_001164101.1:p.Ile46Leu
NM_004817.3:c.136A>C	NP_004808.2:p.Ile46Leu
NM_201629.3:c.136A>C	NP_963923.1:p.Ile46Leu
XM_005252314.1:c.148A>C	XP_005252371.1:p.Ile50Leu
XM_006717324.2:c.130A>C	XP_006717387.1:p.Ile44Leu
XM_011519204.1:c.67A>C	XP_011517506.1:p.Ile23Leu
XM_011519205.1:c.67A>C	XP_011517507.1:p.Ile23Leu
XM_011519206.1:c.67A>C	XP_011517508.1:p.Ile23Leu
XM_011519207.1:c.67A>C	XP_011517509.1:p.Ile23Leu
XM_011519208.1:c.67A>C	XP_011517510.1:p.Ile23Leu
XM_011519209.1:c.67A>C	XP_011517511.1:p.Ile23Leu
NM_004817.4:c.136A>C MANE Select	NP_004808.2:p.Ile46Leu
XM_005252314.2:c.148A>C	XP_005252371.1:p.Ile50Leu
XM_011519206.2:c.67A>C	XP_011517508.1:p.Ile23Leu
XM_011519207.2:c.67A>C	XP_011517509.1:p.Ile23Leu
XM_011519208.2:c.67A>C	XP_011517510.1:p.Ile23Leu
XM_011519209.2:c.67A>C	XP_011517511.1:p.Ile23Leu
XM_017015327.2:c.136A>C	XP_016870816.1:p.Ile46Leu
XM_017015328.1:c.148A>C	XP_016870817.1:p.Ile50Leu
NM_001170416.2:c.229A>C	NP_001163887.1:p.Ile77Leu
NM_001369870.1:c.67A>C	NP_001356799.1:p.Ile23Leu
NM_001369871.1:c.67A>C	NP_001356800.1:p.Ile23Leu
NM_001369872.1:c.136A>C	NP_001356801.1:p.Ile46Leu
NM_001369873.1:c.136A>C	NP_001356802.1:p.Ile46Leu
NM_001369874.1:c.148A>C	NP_001356803.1:p.Ile50Leu
NM_001369875.1:c.148A>C	NP_001356804.1:p.Ile50Leu