Canonical Allele Identifier: CA10606474

Gene: TJP2

Linked Data

• ClinVar Variation Id: 289540
• ClinVar RCV Id: RCV000377916
• dbSNP Id: rs886044200
• gnomAD v2: 9-71789307-C-T
• gnomAD v3: 9-69174391-C-T
• gnomAD v4: 9-69174391-C-T
• COSMIC: COSM5566864 ; COSM5566865
• MyVariant Identifiers: chr9:g.71789307C>T (hg19) ; chr9:g.69174391C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69174391C>T , CM000671.2:g.69174391C>T	GRCh38
NC_000009.11:g.71789307C>T , CM000671.1:g.71789307C>T	GRCh37
NC_000009.10:g.70979127C>T	NCBI36
NG_016342.1:g.58084C>T
NG_016342.2:g.78485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.19C>T	ENSP00000345893.4:p.Arg7Cys
ENST00000377245.9:c.19C>T MANE Select	ENSP00000366453.4:p.Arg7Cys
ENST00000423935.6:c.-10+22620C>T	ENSP00000402941.1:n.-10+22620C>T
ENST00000636247.1:n.98C>T
ENST00000636438.1:c.237+22620C>T	ENSP00000489860.1:n.237+22620C>T
ENST00000642889.1:c.447+22620C>T	ENSP00000493780.1:n.447+22620C>T
ENST00000643352.1:c.*248+22620C>T	ENSP00000496488.1:n.*248+22620C>T
ENST00000643713.1:c.-10+22620C>T	ENSP00000494704.1:n.-10+22620C>T
ENST00000643765.1:c.762+22620C>T
ENST00000645088.1:c.*367+22620C>T	ENSP00000495447.1:n.*367+22620C>T
ENST00000646862.1:c.666+22620C>T	ENSP00000494599.1:n.666+22620C>T
ENST00000647986.1:c.-127-10696C>T	ENSP00000496877.1:n.-127-10696C>T
ENST00000648087.1:n.377+22620C>T
ENST00000649114.1:c.19C>T	ENSP00000497328.1:p.Arg7Cys
ENST00000649943.1:c.19C>T	ENSP00000497539.1:p.Arg7Cys
ENST00000650333.1:c.-51C>T	ENSP00000496791.1:n.-51C>T
ENST00000265384.11:c.19C>T	ENSP00000265384.7:p.Arg7Cys
ENST00000348208.8:c.19C>T	ENSP00000345893.4:p.Arg7Cys
ENST00000377245.8:c.19C>T	ENSP00000366453.4:p.Arg7Cys
ENST00000377259.5:c.-10+22620C>T	ENSP00000366469.1:n.-10+22620C>T
ENST00000423935.5:c.-10+22620C>T	ENSP00000402941.1:n.-10+22620C>T
ENST00000453658.6:c.-10+22620C>T	ENSP00000392178.2:n.-10+22620C>T
ENST00000606364.5:c.-10+22620C>T	ENSP00000475926.1:n.-10+22620C>T
NM_001170414.2:c.-10+22620C>T	NP_001163885.1:n.-10+22620C>T
NM_001170630.1:c.19C>T	NP_001164101.1:p.Arg7Cys
NM_004817.3:c.19C>T	NP_004808.2:p.Arg7Cys
NM_201629.3:c.19C>T	NP_963923.1:p.Arg7Cys
XM_011519204.1:c.-10+22620C>T	XP_011517506.1:n.-10+22620C>T
XM_011519205.1:c.-10+22620C>T	XP_011517507.1:n.-10+22620C>T
XM_011519206.1:c.-10+22620C>T	XP_011517508.1:n.-10+22620C>T
XM_011519207.1:c.-10+22620C>T	XP_011517509.1:n.-10+22620C>T
XM_011519208.1:c.-10+22620C>T	XP_011517510.1:n.-10+22620C>T
NM_004817.4:c.19C>T MANE Select	NP_004808.2:p.Arg7Cys
XM_011519206.2:c.-10+22620C>T	XP_011517508.1:n.-10+22620C>T
XM_011519207.2:c.-10+22620C>T	XP_011517509.1:n.-10+22620C>T
XM_011519208.2:c.-10+22620C>T	XP_011517510.1:n.-10+22620C>T
XM_017015327.2:c.19C>T	XP_016870816.1:p.Arg7Cys
NM_001369870.1:c.-10+22620C>T	NP_001356799.1:n.-10+22620C>T
NM_001369871.1:c.-127-10696C>T	NP_001356800.1:n.-127-10696C>T
NM_001369872.1:c.19C>T	NP_001356801.1:p.Arg7Cys
NM_001369873.1:c.19C>T	NP_001356802.1:p.Arg7Cys