Canonical Allele Identifier: CA2580071974
Gene: CTNND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1701662
ClinVar RCV Id: RCV002275590
dbSNP Id: rs2149799429

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11384862del , CM000667.2:g.11384862del GRCh38
NC_000005.9:g.11384974del , CM000667.1:g.11384974del GRCh37
NC_000005.8:g.11437974del NCBI36
NG_023544.1:g.524140del
NG_023544.2:g.524140del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-19969del ENSP00000516315.1:n.167-19969del
ENST00000706272.1:c.55del
ENST00000304623.13:c.983del MANE Select ENSP00000307134.8:p.Pro328ArgfsTer4
ENST00000304623.12:c.983del ENSP00000307134.8:p.Pro328ArgfsTer4
ENST00000502551.5:c.398-19969del ENSP00000422389.1:n.398-19969del
ENST00000503622.5:c.167-19969del ENSP00000426887.1:n.167-19969del
ENST00000504354.5:n.217-19969del
ENST00000504499.5:c.612+12172del ENSP00000421000.1:n.612+12172del
ENST00000506735.1:n.54del
ENST00000507430.1:n.79del
ENST00000511278.5:n.542-19969del
ENST00000511377.5:c.710del ENSP00000426510.1:p.Pro237ArgfsTer4
ENST00000513588.5:c.440-19969del ENSP00000421093.1:n.440-19969del
NM_001288715.1:c.710del NP_001275644.1:p.Pro237ArgfsTer4
NM_001288716.1:c.167-19969del NP_001275645.1:n.167-19969del
NM_001288717.1:c.-123+12172del NP_001275646.1:n.-123+12172del
NM_001332.3:c.983del NP_001323.1:p.Pro328ArgfsTer4
NR_109988.1:n.630-19969del
XM_005248251.2:c.983del XP_005248308.1:p.Pro328ArgfsTer4
XM_005248252.1:c.941del XP_005248309.1:p.Pro314ArgfsTer4
XM_005248253.1:c.710del XP_005248310.1:p.Pro237ArgfsTer4
XM_011513967.1:c.710del XP_011512269.1:p.Pro237ArgfsTer4
NM_001364128.1:c.167-19969del NP_001351057.1:n.167-19969del
XM_005248251.3:c.983del XP_005248308.1:p.Pro328ArgfsTer4
XM_005248252.2:c.941del XP_005248309.1:p.Pro314ArgfsTer4
XM_011513967.2:c.710del XP_011512269.1:p.Pro237ArgfsTer4
XM_017009072.1:c.440-19969del XP_016864561.1:n.440-19969del
XM_017009073.1:c.398-19969del XP_016864562.1:n.398-19969del
XM_017009074.1:c.440-19969del XP_016864563.1:n.440-19969del
XM_017009075.2:c.167-19969del XP_016864564.1:n.167-19969del
XM_024454368.1:c.-433del XP_024310136.1:n.-433del
NM_001332.4:c.983del MANE Select NP_001323.1:p.Pro328ArgfsTer4
NM_001288717.2:c.-123+12172del NP_001275646.1:n.-123+12172del
NR_109988.2:n.1033-19969del
NM_001364128.2:c.167-19969del NP_001351057.1:n.167-19969del