Canonical Allele Identifier: CA5073818

Gene: TJP2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69249378A>G , CM000671.2:g.69249378A>G	GRCh38
NC_000009.11:g.71864294A>G , CM000671.1:g.71864294A>G	GRCh37
NC_000009.10:g.71054114A>G	NCBI36
NG_016342.1:g.133071A>G
NG_016342.2:g.153472A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004817.4:c.2884A>G MANE Select	NP_004808.2:p.Ile962Val
ENST00000377245.9:c.2884A>G MANE Select	ENSP00000366453.4:p.Ile962Val
NM_001170414.2:c.2811+1154A>G	NP_001163885.1:n.2811+1154A>G
NM_001170415.1:c.2892+1154A>G	NP_001163886.1:n.2892+1154A>G
NM_001170416.1:c.2977A>G	NP_001163887.1:p.Ile993Val
NM_001170416.2:c.2977A>G	NP_001163887.1:p.Ile993Val
NM_001170630.1:c.*1052A>G	NP_001164101.1:n.*1052A>G
NM_001369870.1:c.2809A>G	NP_001356799.1:p.Ile937Val
NM_001369871.1:c.2815A>G	NP_001356800.1:p.Ile939Val
NM_001369872.1:c.2880+1154A>G	NP_001356801.1:n.2880+1154A>G
NM_001369873.1:c.2668-1657A>G	NP_001356802.1:n.2668-1657A>G
NM_001369874.1:c.2892+1154A>G	NP_001356803.1:n.2892+1154A>G
NM_001369875.1:c.2896A>G	NP_001356804.1:p.Ile966Val
NM_004817.3:c.2884A>G	NP_004808.2:p.Ile962Val
NM_201629.3:c.2880+1154A>G	NP_963923.1:n.2880+1154A>G
ENST00000348208.8:c.2880+1154A>G	ENSP00000345893.4:n.2880+1154A>G
ENST00000348208.9:c.2880+1154A>G	ENSP00000345893.4:n.2880+1154A>G
ENST00000377245.8:c.2884A>G	ENSP00000366453.4:p.Ile962Val
ENST00000453658.6:c.2811+1154A>G	ENSP00000392178.2:n.2811+1154A>G
ENST00000498204.2:n.2317+1154A>G
ENST00000535702.5:c.2892+1154A>G	ENSP00000442090.1:n.2892+1154A>G
ENST00000535702.6:c.2892+1154A>G	ENSP00000442090.1:n.2892+1154A>G
ENST00000539225.1:c.2977A>G	ENSP00000438262.1:p.Ile993Val
ENST00000539225.2:c.2977A>G	ENSP00000438262.1:p.Ile993Val
ENST00000636438.1:c.3061A>G	ENSP00000489860.1:p.Ile1021Val
ENST00000642889.1:c.3271A>G	ENSP00000493780.1:p.Ile1091Val
ENST00000645088.1:c.*3187+1154A>G	ENSP00000495447.1:n.*3187+1154A>G
ENST00000648042.1:c.1377-1657A>G
ENST00000649114.1:c.2880+1154A>G	ENSP00000497328.1:n.2880+1154A>G
ENST00000649134.1:c.2892+1154A>G	ENSP00000498068.1:n.2892+1154A>G
ENST00000649783.1:n.2904+1154A>G
ENST00000649927.1:n.429A>G
ENST00000649943.1:c.2880+1154A>G	ENSP00000497539.1:n.2880+1154A>G
ENST00000650084.1:c.2887A>G	ENSP00000497861.1:p.Ile963Val
ENST00000650333.1:c.2815A>G	ENSP00000496791.1:p.Ile939Val
ENST00000650353.1:n.586+1154A>G
ENST00000650460.1:c.1840-3437A>G
ENST00000650522.1:n.2403+1154A>G
XM_005252314.1:c.2896A>G	XP_005252371.1:p.Ile966Val
XM_005252314.2:c.2896A>G	XP_005252371.1:p.Ile966Val
XM_006717324.2:c.2878A>G	XP_006717387.1:p.Ile960Val
XM_011519204.1:c.2811+1154A>G	XP_011517506.1:n.2811+1154A>G
XM_011519205.1:c.2815A>G	XP_011517507.1:p.Ile939Val
XM_011519206.1:c.2815A>G	XP_011517508.1:p.Ile939Val
XM_011519206.2:c.2815A>G	XP_011517508.1:p.Ile939Val
XM_011519207.1:c.2815A>G	XP_011517509.1:p.Ile939Val
XM_011519207.2:c.2815A>G	XP_011517509.1:p.Ile939Val
XM_011519208.1:c.2815A>G	XP_011517510.1:p.Ile939Val
XM_011519208.2:c.2815A>G	XP_011517510.1:p.Ile939Val
XM_011519209.1:c.2815A>G	XP_011517511.1:p.Ile939Val
XM_011519209.2:c.2815A>G	XP_011517511.1:p.Ile939Val
XM_017015327.2:c.2880+1154A>G	XP_016870816.1:n.2880+1154A>G
XM_017015328.1:c.2892+1154A>G	XP_016870817.1:n.2892+1154A>G