Canonical Allele Identifier: CA5073153

Gene: TJP2

Linked Data

• ClinVar Variation Id: 1694000
• ClinVar RCV Id: RCV002261869
• dbSNP Id: rs759484247
• ExAC: 9:71840231 C / T
• gnomAD v2: 9-71840231-C-T
• gnomAD v3: 9-69225315-C-T
• gnomAD v4: 9-69225315-C-T
• MyVariant Identifiers: chr9:g.71840231C>T (hg19) ; chr9:g.69225315C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69225315C>T , CM000671.2:g.69225315C>T	GRCh38
NC_000009.11:g.71840231C>T , CM000671.1:g.71840231C>T	GRCh37
NC_000009.10:g.71030051C>T	NCBI36
NG_016342.1:g.109008C>T
NG_016342.2:g.129409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348208.9:c.964C>T	ENSP00000345893.4:p.Arg322Trp
ENST00000377245.9:c.964C>T MANE Select	ENSP00000366453.4:p.Arg322Trp
ENST00000535702.6:c.976C>T	ENSP00000442090.1:p.Arg326Trp
ENST00000539225.2:c.1057C>T	ENSP00000438262.1:p.Arg353Trp
ENST00000636247.1:n.1043C>T
ENST00000636438.1:c.1141C>T	ENSP00000489860.1:p.Arg381Trp
ENST00000642889.1:c.1351C>T	ENSP00000493780.1:p.Arg451Trp
ENST00000643352.1:c.*1152C>T	ENSP00000496488.1:n.*1152C>T
ENST00000645088.1:c.*1271C>T	ENSP00000495447.1:n.*1271C>T
ENST00000647986.1:c.895C>T	ENSP00000496877.1:p.Arg299Trp
ENST00000648087.1:n.1281C>T
ENST00000648153.1:n.107C>T
ENST00000648862.1:n.176C>T
ENST00000649114.1:c.964C>T	ENSP00000497328.1:p.Arg322Trp
ENST00000649134.1:c.976C>T	ENSP00000498068.1:p.Arg326Trp
ENST00000649783.1:n.988C>T
ENST00000649943.1:c.964C>T	ENSP00000497539.1:p.Arg322Trp
ENST00000650084.1:c.967C>T	ENSP00000497861.1:p.Arg323Trp
ENST00000650333.1:c.895C>T	ENSP00000496791.1:p.Arg299Trp
ENST00000650460.1:c.237C>T
ENST00000650522.1:n.976+3819C>T
ENST00000265384.11:c.964C>T	ENSP00000265384.7:p.Arg322Trp
ENST00000348208.8:c.964C>T	ENSP00000345893.4:p.Arg322Trp
ENST00000377245.8:c.964C>T	ENSP00000366453.4:p.Arg322Trp
ENST00000453658.6:c.895C>T	ENSP00000392178.2:p.Arg299Trp
ENST00000535702.5:c.976C>T	ENSP00000442090.1:p.Arg326Trp
ENST00000539225.1:c.1057C>T	ENSP00000438262.1:p.Arg353Trp
NM_001170414.2:c.895C>T	NP_001163885.1:p.Arg299Trp
NM_001170415.1:c.976C>T	NP_001163886.1:p.Arg326Trp
NM_001170416.1:c.1057C>T	NP_001163887.1:p.Arg353Trp
NM_001170630.1:c.964C>T	NP_001164101.1:p.Arg322Trp
NM_004817.3:c.964C>T	NP_004808.2:p.Arg322Trp
NM_201629.3:c.964C>T	NP_963923.1:p.Arg322Trp
XM_005252314.1:c.976C>T	XP_005252371.1:p.Arg326Trp
XM_006717324.2:c.958C>T	XP_006717387.1:p.Arg320Trp
XM_011519204.1:c.895C>T	XP_011517506.1:p.Arg299Trp
XM_011519205.1:c.895C>T	XP_011517507.1:p.Arg299Trp
XM_011519206.1:c.895C>T	XP_011517508.1:p.Arg299Trp
XM_011519207.1:c.895C>T	XP_011517509.1:p.Arg299Trp
XM_011519208.1:c.895C>T	XP_011517510.1:p.Arg299Trp
XM_011519209.1:c.895C>T	XP_011517511.1:p.Arg299Trp
NM_004817.4:c.964C>T MANE Select	NP_004808.2:p.Arg322Trp
XM_005252314.2:c.976C>T	XP_005252371.1:p.Arg326Trp
XM_011519206.2:c.895C>T	XP_011517508.1:p.Arg299Trp
XM_011519207.2:c.895C>T	XP_011517509.1:p.Arg299Trp
XM_011519208.2:c.895C>T	XP_011517510.1:p.Arg299Trp
XM_011519209.2:c.895C>T	XP_011517511.1:p.Arg299Trp
XM_017015327.2:c.964C>T	XP_016870816.1:p.Arg322Trp
XM_017015328.1:c.976C>T	XP_016870817.1:p.Arg326Trp
NM_001170416.2:c.1057C>T	NP_001163887.1:p.Arg353Trp
NM_001369870.1:c.895C>T	NP_001356799.1:p.Arg299Trp
NM_001369871.1:c.895C>T	NP_001356800.1:p.Arg299Trp
NM_001369872.1:c.964C>T	NP_001356801.1:p.Arg322Trp
NM_001369873.1:c.964C>T	NP_001356802.1:p.Arg322Trp
NM_001369874.1:c.976C>T	NP_001356803.1:p.Arg326Trp
NM_001369875.1:c.976C>T	NP_001356804.1:p.Arg326Trp