Canonical Allele Identifier: CA114394850
Gene: CTNND2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2372317
ClinVar RCV Id: RCV003001546
dbSNP Id: rs560682486
gnomAD v2: 5-11385169-G-T
gnomAD v3: 5-11385057-G-T
gnomAD v4: 5-11385057-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11385057G>T , CM000667.2:g.11385057G>T GRCh38
NC_000005.9:g.11385169G>T , CM000667.1:g.11385169G>T GRCh37
NC_000005.8:g.11438169G>T NCBI36
NG_023544.1:g.523942C>A
NG_023544.2:g.523942C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-20167C>A ENSP00000516315.1:n.167-20167C>A
ENST00000304623.13:c.785C>A MANE Select ENSP00000307134.8:p.Pro262Gln
ENST00000304623.12:c.785C>A ENSP00000307134.8:p.Pro262Gln
ENST00000502551.5:c.398-20167C>A ENSP00000422389.1:n.398-20167C>A
ENST00000503622.5:c.167-20167C>A ENSP00000426887.1:n.167-20167C>A
ENST00000504354.5:n.217-20167C>A
ENST00000504499.5:c.612+11974C>A ENSP00000421000.1:n.612+11974C>A
ENST00000511278.5:n.542-20167C>A
ENST00000511377.5:c.512C>A ENSP00000426510.1:p.Pro171Gln
ENST00000513588.5:c.440-20167C>A ENSP00000421093.1:n.440-20167C>A
ENST00000513598.5:c.512C>A ENSP00000426625.1:p.Pro171Gln
ENST00000514132.1:n.434C>A
NM_001288715.1:c.512C>A NP_001275644.1:p.Pro171Gln
NM_001288716.1:c.167-20167C>A NP_001275645.1:n.167-20167C>A
NM_001288717.1:c.-123+11974C>A NP_001275646.1:n.-123+11974C>A
NM_001332.3:c.785C>A NP_001323.1:p.Pro262Gln
NR_109988.1:n.630-20167C>A
XM_005248251.2:c.785C>A XP_005248308.1:p.Pro262Gln
XM_005248252.1:c.743C>A XP_005248309.1:p.Pro248Gln
XM_005248253.1:c.512C>A XP_005248310.1:p.Pro171Gln
XM_011513967.1:c.512C>A XP_011512269.1:p.Pro171Gln
NM_001364128.1:c.167-20167C>A NP_001351057.1:n.167-20167C>A
XM_005248251.3:c.785C>A XP_005248308.1:p.Pro262Gln
XM_005248252.2:c.743C>A XP_005248309.1:p.Pro248Gln
XM_011513967.2:c.512C>A XP_011512269.1:p.Pro171Gln
XM_017009072.1:c.440-20167C>A XP_016864561.1:n.440-20167C>A
XM_017009073.1:c.398-20167C>A XP_016864562.1:n.398-20167C>A
XM_017009074.1:c.440-20167C>A XP_016864563.1:n.440-20167C>A
XM_017009075.2:c.167-20167C>A XP_016864564.1:n.167-20167C>A
NM_001332.4:c.785C>A MANE Select NP_001323.1:p.Pro262Gln
NM_001288717.2:c.-123+11974C>A NP_001275646.1:n.-123+11974C>A
NR_109988.2:n.1033-20167C>A
NM_001364128.2:c.167-20167C>A NP_001351057.1:n.167-20167C>A