Canonical Allele Identifier: CA178180
Gene: TJP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 165416
ClinVar RCV Id: RCV000152025 RCV000900846 RCV003927468
dbSNP Id: rs75450131
ExAC: 9:71861675 A / G
gnomAD v2: 9-71861675-A-G
gnomAD v3: 9-69246759-A-G
gnomAD v4: 9-69246759-A-G
MyVariant Identifiers: chr9:g.71861675A>G (hg19) chr9:g.69246759A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69246759A>G , CM000671.2:g.69246759A>G GRCh38
NC_000009.11:g.71861675A>G , CM000671.1:g.71861675A>G GRCh37
NC_000009.10:g.71051495A>G NCBI36
NG_016342.1:g.130452A>G
NG_016342.2:g.150853A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000348208.9:c.2636A>G ENSP00000345893.4:p.Gln879Arg
ENST00000377245.9:c.2636A>G MANE Select ENSP00000366453.4:p.Gln879Arg
ENST00000498204.2:n.2073A>G
ENST00000535702.6:c.2648A>G ENSP00000442090.1:p.Gln883Arg
ENST00000539225.2:c.2729A>G ENSP00000438262.1:p.Gln910Arg
ENST00000636247.1:n.2715A>G
ENST00000636438.1:c.2813A>G ENSP00000489860.1:p.Gln938Arg
ENST00000642889.1:c.3023A>G ENSP00000493780.1:p.Gln1008Arg
ENST00000643352.1:c.*2824A>G ENSP00000496488.1:n.*2824A>G
ENST00000645088.1:c.*2943A>G ENSP00000495447.1:n.*2943A>G
ENST00000648042.1:c.1345A>G
ENST00000648087.1:n.2946A>G
ENST00000649114.1:c.2636A>G ENSP00000497328.1:p.Gln879Arg
ENST00000649134.1:c.2648A>G ENSP00000498068.1:p.Gln883Arg
ENST00000649783.1:n.2660A>G
ENST00000649927.1:n.181A>G
ENST00000649943.1:c.2636A>G ENSP00000497539.1:p.Gln879Arg
ENST00000650084.1:c.2639A>G ENSP00000497861.1:p.Gln880Arg
ENST00000650333.1:c.2567A>G ENSP00000496791.1:p.Gln856Arg
ENST00000650460.1:c.1840-6056A>G
ENST00000650522.1:n.2159A>G
ENST00000265384.11:c.2636A>G ENSP00000265384.7:p.Gln879Arg
ENST00000348208.8:c.2636A>G ENSP00000345893.4:p.Gln879Arg
ENST00000377245.8:c.2636A>G ENSP00000366453.4:p.Gln879Arg
ENST00000453658.6:c.2567A>G ENSP00000392178.2:p.Gln856Arg
ENST00000498204.1:n.534A>G
ENST00000535702.5:c.2648A>G ENSP00000442090.1:p.Gln883Arg
ENST00000539225.1:c.2729A>G ENSP00000438262.1:p.Gln910Arg
NM_001170414.2:c.2567A>G NP_001163885.1:p.Gln856Arg
NM_001170415.1:c.2648A>G NP_001163886.1:p.Gln883Arg
NM_001170416.1:c.2729A>G NP_001163887.1:p.Gln910Arg
NM_001170630.1:c.2636A>G NP_001164101.1:p.Gln879Arg
NM_004817.3:c.2636A>G NP_004808.2:p.Gln879Arg
NM_201629.3:c.2636A>G NP_963923.1:p.Gln879Arg
XM_005252314.1:c.2648A>G XP_005252371.1:p.Gln883Arg
XM_006717324.2:c.2630A>G XP_006717387.1:p.Gln877Arg
XM_011519204.1:c.2567A>G XP_011517506.1:p.Gln856Arg
XM_011519205.1:c.2567A>G XP_011517507.1:p.Gln856Arg
XM_011519206.1:c.2567A>G XP_011517508.1:p.Gln856Arg
XM_011519207.1:c.2567A>G XP_011517509.1:p.Gln856Arg
XM_011519208.1:c.2567A>G XP_011517510.1:p.Gln856Arg
XM_011519209.1:c.2567A>G XP_011517511.1:p.Gln856Arg
NM_004817.4:c.2636A>G MANE Select NP_004808.2:p.Gln879Arg
XM_005252314.2:c.2648A>G XP_005252371.1:p.Gln883Arg
XM_011519206.2:c.2567A>G XP_011517508.1:p.Gln856Arg
XM_011519207.2:c.2567A>G XP_011517509.1:p.Gln856Arg
XM_011519208.2:c.2567A>G XP_011517510.1:p.Gln856Arg
XM_011519209.2:c.2567A>G XP_011517511.1:p.Gln856Arg
XM_017015327.2:c.2636A>G XP_016870816.1:p.Gln879Arg
XM_017015328.1:c.2648A>G XP_016870817.1:p.Gln883Arg
NM_001170416.2:c.2729A>G NP_001163887.1:p.Gln910Arg
NM_001369870.1:c.2561A>G NP_001356799.1:p.Gln854Arg
NM_001369871.1:c.2567A>G NP_001356800.1:p.Gln856Arg
NM_001369872.1:c.2636A>G NP_001356801.1:p.Gln879Arg
NM_001369873.1:c.2636A>G NP_001356802.1:p.Gln879Arg
NM_001369874.1:c.2648A>G NP_001356803.1:p.Gln883Arg
NM_001369875.1:c.2648A>G NP_001356804.1:p.Gln883Arg
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