Canonical Allele Identifier: CA465243104
Gene: TJP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.71840230C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69225314C>G , CM000671.2:g.69225314C>G GRCh38
NC_000009.11:g.71840230C>G , CM000671.1:g.71840230C>G GRCh37
NC_000009.10:g.71030050C>G NCBI36
NG_016342.1:g.109007C>G
NG_016342.2:g.129408C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000348208.9:c.963C>G ENSP00000345893.4:p.Leu321=
ENST00000377245.9:c.963C>G MANE Select ENSP00000366453.4:p.Leu321=
ENST00000535702.6:c.975C>G ENSP00000442090.1:p.Leu325=
ENST00000539225.2:c.1056C>G ENSP00000438262.1:p.Leu352=
ENST00000636247.1:n.1042C>G
ENST00000636438.1:c.1140C>G ENSP00000489860.1:p.Leu380=
ENST00000642889.1:c.1350C>G ENSP00000493780.1:p.Leu450=
ENST00000643352.1:c.*1151C>G ENSP00000496488.1:n.*1151C>G
ENST00000645088.1:c.*1270C>G ENSP00000495447.1:n.*1270C>G
ENST00000647986.1:c.894C>G ENSP00000496877.1:p.Leu298=
ENST00000648087.1:n.1280C>G
ENST00000648153.1:n.106C>G
ENST00000648862.1:n.175C>G
ENST00000649114.1:c.963C>G ENSP00000497328.1:p.Leu321=
ENST00000649134.1:c.975C>G ENSP00000498068.1:p.Leu325=
ENST00000649783.1:n.987C>G
ENST00000649943.1:c.963C>G ENSP00000497539.1:p.Leu321=
ENST00000650084.1:c.966C>G ENSP00000497861.1:p.Leu322=
ENST00000650333.1:c.894C>G ENSP00000496791.1:p.Leu298=
ENST00000650460.1:c.236C>G
ENST00000650522.1:n.976+3818C>G
ENST00000265384.11:c.963C>G ENSP00000265384.7:p.Leu321=
ENST00000348208.8:c.963C>G ENSP00000345893.4:p.Leu321=
ENST00000377245.8:c.963C>G ENSP00000366453.4:p.Leu321=
ENST00000453658.6:c.894C>G ENSP00000392178.2:p.Leu298=
ENST00000535702.5:c.975C>G ENSP00000442090.1:p.Leu325=
ENST00000539225.1:c.1056C>G ENSP00000438262.1:p.Leu352=
NM_001170414.2:c.894C>G NP_001163885.1:p.Leu298=
NM_001170415.1:c.975C>G NP_001163886.1:p.Leu325=
NM_001170416.1:c.1056C>G NP_001163887.1:p.Leu352=
NM_001170630.1:c.963C>G NP_001164101.1:p.Leu321=
NM_004817.3:c.963C>G NP_004808.2:p.Leu321=
NM_201629.3:c.963C>G NP_963923.1:p.Leu321=
XM_005252314.1:c.975C>G XP_005252371.1:p.Leu325=
XM_006717324.2:c.957C>G XP_006717387.1:p.Leu319=
XM_011519204.1:c.894C>G XP_011517506.1:p.Leu298=
XM_011519205.1:c.894C>G XP_011517507.1:p.Leu298=
XM_011519206.1:c.894C>G XP_011517508.1:p.Leu298=
XM_011519207.1:c.894C>G XP_011517509.1:p.Leu298=
XM_011519208.1:c.894C>G XP_011517510.1:p.Leu298=
XM_011519209.1:c.894C>G XP_011517511.1:p.Leu298=
NM_004817.4:c.963C>G MANE Select NP_004808.2:p.Leu321=
XM_005252314.2:c.975C>G XP_005252371.1:p.Leu325=
XM_011519206.2:c.894C>G XP_011517508.1:p.Leu298=
XM_011519207.2:c.894C>G XP_011517509.1:p.Leu298=
XM_011519208.2:c.894C>G XP_011517510.1:p.Leu298=
XM_011519209.2:c.894C>G XP_011517511.1:p.Leu298=
XM_017015327.2:c.963C>G XP_016870816.1:p.Leu321=
XM_017015328.1:c.975C>G XP_016870817.1:p.Leu325=
NM_001170416.2:c.1056C>G NP_001163887.1:p.Leu352=
NM_001369870.1:c.894C>G NP_001356799.1:p.Leu298=
NM_001369871.1:c.894C>G NP_001356800.1:p.Leu298=
NM_001369872.1:c.963C>G NP_001356801.1:p.Leu321=
NM_001369873.1:c.963C>G NP_001356802.1:p.Leu321=
NM_001369874.1:c.975C>G NP_001356803.1:p.Leu325=
NM_001369875.1:c.975C>G NP_001356804.1:p.Leu325=