Canonical Allele Identifier: CA588210102
Gene: TJP2 HGNC NCBI

Linked Data

dbSNP Id: rs375972558
gnomAD v2: 9-71840192-C-A
gnomAD v4: 9-69225276-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69225276C>A , CM000671.2:g.69225276C>A GRCh38
NC_000009.11:g.71840192C>A , CM000671.1:g.71840192C>A GRCh37
NC_000009.10:g.71030012C>A NCBI36
NG_016342.1:g.108969C>A
NG_016342.2:g.129370C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000348208.9:c.953-28C>A ENSP00000345893.4:n.953-28C>A
ENST00000377245.9:c.953-28C>A MANE Select ENSP00000366453.4:n.953-28C>A
ENST00000535702.6:c.965-28C>A ENSP00000442090.1:n.965-28C>A
ENST00000539225.2:c.1046-28C>A ENSP00000438262.1:n.1046-28C>A
ENST00000636247.1:n.1032-28C>A
ENST00000636438.1:c.1130-28C>A ENSP00000489860.1:n.1130-28C>A
ENST00000642889.1:c.1340-28C>A ENSP00000493780.1:n.1340-28C>A
ENST00000643352.1:c.*1141-28C>A ENSP00000496488.1:n.*1141-28C>A
ENST00000645088.1:c.*1260-28C>A ENSP00000495447.1:n.*1260-28C>A
ENST00000647986.1:c.884-28C>A ENSP00000496877.1:n.884-28C>A
ENST00000648087.1:n.1270-28C>A
ENST00000648153.1:n.96-28C>A
ENST00000648862.1:n.165-28C>A
ENST00000649114.1:c.953-28C>A ENSP00000497328.1:n.953-28C>A
ENST00000649134.1:c.965-28C>A ENSP00000498068.1:n.965-28C>A
ENST00000649783.1:n.977-28C>A
ENST00000649943.1:c.953-28C>A ENSP00000497539.1:n.953-28C>A
ENST00000650084.1:c.956-28C>A ENSP00000497861.1:n.956-28C>A
ENST00000650333.1:c.884-28C>A ENSP00000496791.1:n.884-28C>A
ENST00000650460.1:c.226-28C>A
ENST00000650522.1:n.976+3780C>A
ENST00000265384.11:c.953-28C>A ENSP00000265384.7:n.953-28C>A
ENST00000348208.8:c.953-28C>A ENSP00000345893.4:n.953-28C>A
ENST00000377245.8:c.953-28C>A ENSP00000366453.4:n.953-28C>A
ENST00000453658.6:c.884-28C>A ENSP00000392178.2:n.884-28C>A
ENST00000535702.5:c.965-28C>A ENSP00000442090.1:n.965-28C>A
ENST00000539225.1:c.1046-28C>A ENSP00000438262.1:n.1046-28C>A
NM_001170414.2:c.884-28C>A NP_001163885.1:n.884-28C>A
NM_001170415.1:c.965-28C>A NP_001163886.1:n.965-28C>A
NM_001170416.1:c.1046-28C>A NP_001163887.1:n.1046-28C>A
NM_001170630.1:c.953-28C>A NP_001164101.1:n.953-28C>A
NM_004817.3:c.953-28C>A NP_004808.2:n.953-28C>A
NM_201629.3:c.953-28C>A NP_963923.1:n.953-28C>A
XM_005252314.1:c.965-28C>A XP_005252371.1:n.965-28C>A
XM_006717324.2:c.947-28C>A XP_006717387.1:n.947-28C>A
XM_011519204.1:c.884-28C>A XP_011517506.1:n.884-28C>A
XM_011519205.1:c.884-28C>A XP_011517507.1:n.884-28C>A
XM_011519206.1:c.884-28C>A XP_011517508.1:n.884-28C>A
XM_011519207.1:c.884-28C>A XP_011517509.1:n.884-28C>A
XM_011519208.1:c.884-28C>A XP_011517510.1:n.884-28C>A
XM_011519209.1:c.884-28C>A XP_011517511.1:n.884-28C>A
NM_004817.4:c.953-28C>A MANE Select NP_004808.2:n.953-28C>A
XM_005252314.2:c.965-28C>A XP_005252371.1:n.965-28C>A
XM_011519206.2:c.884-28C>A XP_011517508.1:n.884-28C>A
XM_011519207.2:c.884-28C>A XP_011517509.1:n.884-28C>A
XM_011519208.2:c.884-28C>A XP_011517510.1:n.884-28C>A
XM_011519209.2:c.884-28C>A XP_011517511.1:n.884-28C>A
XM_017015327.2:c.953-28C>A XP_016870816.1:n.953-28C>A
XM_017015328.1:c.965-28C>A XP_016870817.1:n.965-28C>A
NM_001170416.2:c.1046-28C>A NP_001163887.1:n.1046-28C>A
NM_001369870.1:c.884-28C>A NP_001356799.1:n.884-28C>A
NM_001369871.1:c.884-28C>A NP_001356800.1:n.884-28C>A
NM_001369872.1:c.953-28C>A NP_001356801.1:n.953-28C>A
NM_001369873.1:c.953-28C>A NP_001356802.1:n.953-28C>A
NM_001369874.1:c.965-28C>A NP_001356803.1:n.965-28C>A
NM_001369875.1:c.965-28C>A NP_001356804.1:n.965-28C>A