Canonical Allele Identifier: CA373525957

Gene: TJP2

Linked Data

• dbSNP Id: rs769217430
• gnomAD v4: 9-69216366-G-C
• MyVariant Identifiers: chr9:g.71831282G>C (hg19) ; chr9:g.69216366G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69216366G>C , CM000671.2:g.69216366G>C	GRCh38
NC_000009.11:g.71831282G>C , CM000671.1:g.71831282G>C	GRCh37
NC_000009.10:g.71021102G>C	NCBI36
NG_016342.1:g.100059G>C
NG_016342.2:g.120460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.142G>C	ENSP00000345893.4:p.Val48Leu
ENST00000377245.9:c.142G>C MANE Select	ENSP00000366453.4:p.Val48Leu
ENST00000423935.6:c.73G>C	ENSP00000402941.1:p.Val25Leu
ENST00000535702.6:c.154G>C	ENSP00000442090.1:p.Val52Leu
ENST00000539225.2:c.235G>C	ENSP00000438262.1:p.Val79Leu
ENST00000636247.1:n.221G>C
ENST00000636438.1:c.319G>C	ENSP00000489860.1:p.Val107Leu
ENST00000642889.1:c.529G>C	ENSP00000493780.1:p.Val177Leu
ENST00000643352.1:c.*330G>C	ENSP00000496488.1:n.*330G>C
ENST00000643765.1:c.844G>C
ENST00000645088.1:c.*449G>C	ENSP00000495447.1:n.*449G>C
ENST00000647986.1:c.73G>C	ENSP00000496877.1:p.Val25Leu
ENST00000648087.1:n.459G>C
ENST00000648402.1:c.73G>C	ENSP00000497596.1:p.Val25Leu
ENST00000649114.1:c.142G>C	ENSP00000497328.1:p.Val48Leu
ENST00000649134.1:c.154G>C	ENSP00000498068.1:p.Val52Leu
ENST00000649783.1:n.166G>C
ENST00000649939.1:c.73G>C	ENSP00000498043.1:p.Val25Leu
ENST00000649943.1:c.142G>C	ENSP00000497539.1:p.Val48Leu
ENST00000650084.1:c.145G>C	ENSP00000497861.1:p.Val49Leu
ENST00000650333.1:c.73G>C	ENSP00000496791.1:p.Val25Leu
ENST00000650378.1:n.170G>C
ENST00000650522.1:n.166G>C
ENST00000265384.11:c.142G>C	ENSP00000265384.7:p.Val48Leu
ENST00000348208.8:c.142G>C	ENSP00000345893.4:p.Val48Leu
ENST00000377245.8:c.142G>C	ENSP00000366453.4:p.Val48Leu
ENST00000377259.5:c.73G>C	ENSP00000366469.1:p.Val25Leu
ENST00000423935.5:c.73G>C	ENSP00000402941.1:p.Val25Leu
ENST00000453658.6:c.73G>C	ENSP00000392178.2:p.Val25Leu
ENST00000535702.5:c.154G>C	ENSP00000442090.1:p.Val52Leu
ENST00000539225.1:c.235G>C	ENSP00000438262.1:p.Val79Leu
ENST00000606364.5:c.73G>C	ENSP00000475926.1:p.Val25Leu
NM_001170414.2:c.73G>C	NP_001163885.1:p.Val25Leu
NM_001170415.1:c.154G>C	NP_001163886.1:p.Val52Leu
NM_001170416.1:c.235G>C	NP_001163887.1:p.Val79Leu
NM_001170630.1:c.142G>C	NP_001164101.1:p.Val48Leu
NM_004817.3:c.142G>C	NP_004808.2:p.Val48Leu
NM_201629.3:c.142G>C	NP_963923.1:p.Val48Leu
XM_005252314.1:c.154G>C	XP_005252371.1:p.Val52Leu
XM_006717324.2:c.136G>C	XP_006717387.1:p.Val46Leu
XM_011519204.1:c.73G>C	XP_011517506.1:p.Val25Leu
XM_011519205.1:c.73G>C	XP_011517507.1:p.Val25Leu
XM_011519206.1:c.73G>C	XP_011517508.1:p.Val25Leu
XM_011519207.1:c.73G>C	XP_011517509.1:p.Val25Leu
XM_011519208.1:c.73G>C	XP_011517510.1:p.Val25Leu
XM_011519209.1:c.73G>C	XP_011517511.1:p.Val25Leu
NM_004817.4:c.142G>C MANE Select	NP_004808.2:p.Val48Leu
XM_005252314.2:c.154G>C	XP_005252371.1:p.Val52Leu
XM_011519206.2:c.73G>C	XP_011517508.1:p.Val25Leu
XM_011519207.2:c.73G>C	XP_011517509.1:p.Val25Leu
XM_011519208.2:c.73G>C	XP_011517510.1:p.Val25Leu
XM_011519209.2:c.73G>C	XP_011517511.1:p.Val25Leu
XM_017015327.2:c.142G>C	XP_016870816.1:p.Val48Leu
XM_017015328.1:c.154G>C	XP_016870817.1:p.Val52Leu
NM_001170416.2:c.235G>C	NP_001163887.1:p.Val79Leu
NM_001369870.1:c.73G>C	NP_001356799.1:p.Val25Leu
NM_001369871.1:c.73G>C	NP_001356800.1:p.Val25Leu
NM_001369872.1:c.142G>C	NP_001356801.1:p.Val48Leu
NM_001369873.1:c.142G>C	NP_001356802.1:p.Val48Leu
NM_001369874.1:c.154G>C	NP_001356803.1:p.Val52Leu
NM_001369875.1:c.154G>C	NP_001356804.1:p.Val52Leu