Canonical Allele Identifier: CA13011919
Gene: TJP2 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.69151677C>A
GRCh37 chr9:g.71766593C>A
gnomAD v2:
9:71766593 C / A
gnomAD v3:
9:69151677 C / A
gnomAD v4:
chr9-69151677-C-A
Joint Max Group AF 0.21400556 (NFE)
Genomes Max Group AF 0.20698669 (NFE)
Exomes Max Group AF 0.21433757 (NFE)
dbSNP:
11145465
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69151677C>A , CM000671.2:g.69151677C>A GRCh38
NC_000009.11:g.71766593C>A , CM000671.1:g.71766593C>A GRCh37
NC_000009.10:g.70956413C>A NCBI36
NG_016342.1:g.35370C>A
NG_016342.2:g.55771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423935.6:c.-104C>A ENSP00000402941.1:n.-104C>A
ENST00000636438.1:c.143C>A ENSP00000489860.1:p.Ser48Tyr
ENST00000642889.1:c.353C>A ENSP00000493780.1:p.Ser118Tyr
ENST00000643352.1:c.*154C>A ENSP00000496488.1:n.*154C>A
ENST00000643713.1:c.-104C>A ENSP00000494704.1:n.-104C>A
ENST00000643765.1:c.668C>A
ENST00000645088.1:c.*273C>A ENSP00000495447.1:n.*273C>A
ENST00000646862.1:c.572C>A ENSP00000494599.1:p.Ser191Tyr
ENST00000647986.1:c.-222C>A ENSP00000496877.1:n.-222C>A
ENST00000648087.1:n.283C>A
ENST00000377259.5:c.-104C>A ENSP00000366469.1:n.-104C>A
ENST00000423935.5:c.-104C>A ENSP00000402941.1:n.-104C>A
ENST00000453658.6:c.-104C>A ENSP00000392178.2:n.-104C>A
ENST00000606364.5:c.-104C>A ENSP00000475926.1:n.-104C>A
NM_001170414.2:c.-104C>A NP_001163885.1:n.-104C>A
XM_011519204.1:c.-104C>A XP_011517506.1:n.-104C>A
XM_011519205.1:c.-104C>A XP_011517507.1:n.-104C>A
XM_011519206.1:c.-104C>A XP_011517508.1:n.-104C>A
XM_011519207.1:c.-104C>A XP_011517509.1:n.-104C>A
XM_011519208.1:c.-104C>A XP_011517510.1:n.-104C>A
XM_011519206.2:c.-104C>A XP_011517508.1:n.-104C>A
XM_011519207.2:c.-104C>A XP_011517509.1:n.-104C>A
XM_011519208.2:c.-104C>A XP_011517510.1:n.-104C>A
NM_001369870.1:c.-104C>A NP_001356799.1:n.-104C>A
NM_001369871.1:c.-222C>A NP_001356800.1:n.-222C>A
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