Canonical Allele Identifier: CA359281824
Gene: CTNND2 HGNC NCBI

Linked Data

dbSNP Id: rs1206155713
gnomAD v2: 5-11385212-C-T
gnomAD v3: 5-11385100-C-T
gnomAD v4: 5-11385100-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11385100C>T , CM000667.2:g.11385100C>T GRCh38
NC_000005.9:g.11385212C>T , CM000667.1:g.11385212C>T GRCh37
NC_000005.8:g.11438212C>T NCBI36
NG_023544.1:g.523899G>A
NG_023544.2:g.523899G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-20210G>A ENSP00000516315.1:n.167-20210G>A
ENST00000304623.13:c.742G>A MANE Select ENSP00000307134.8:p.Ala248Thr
ENST00000304623.12:c.742G>A ENSP00000307134.8:p.Ala248Thr
ENST00000502551.5:c.398-20210G>A ENSP00000422389.1:n.398-20210G>A
ENST00000503622.5:c.167-20210G>A ENSP00000426887.1:n.167-20210G>A
ENST00000504354.5:n.217-20210G>A
ENST00000504499.5:c.612+11931G>A ENSP00000421000.1:n.612+11931G>A
ENST00000511278.5:n.542-20210G>A
ENST00000511377.5:c.469G>A ENSP00000426510.1:p.Ala157Thr
ENST00000513588.5:c.440-20210G>A ENSP00000421093.1:n.440-20210G>A
ENST00000513598.5:c.469G>A ENSP00000426625.1:p.Ala157Thr
ENST00000514132.1:n.391G>A
NM_001288715.1:c.469G>A NP_001275644.1:p.Ala157Thr
NM_001288716.1:c.167-20210G>A NP_001275645.1:n.167-20210G>A
NM_001288717.1:c.-123+11931G>A NP_001275646.1:n.-123+11931G>A
NM_001332.3:c.742G>A NP_001323.1:p.Ala248Thr
NR_109988.1:n.630-20210G>A
XM_005248251.2:c.742G>A XP_005248308.1:p.Ala248Thr
XM_005248252.1:c.700G>A XP_005248309.1:p.Ala234Thr
XM_005248253.1:c.469G>A XP_005248310.1:p.Ala157Thr
XM_011513967.1:c.469G>A XP_011512269.1:p.Ala157Thr
NM_001364128.1:c.167-20210G>A NP_001351057.1:n.167-20210G>A
XM_005248251.3:c.742G>A XP_005248308.1:p.Ala248Thr
XM_005248252.2:c.700G>A XP_005248309.1:p.Ala234Thr
XM_011513967.2:c.469G>A XP_011512269.1:p.Ala157Thr
XM_017009072.1:c.440-20210G>A XP_016864561.1:n.440-20210G>A
XM_017009073.1:c.398-20210G>A XP_016864562.1:n.398-20210G>A
XM_017009074.1:c.440-20210G>A XP_016864563.1:n.440-20210G>A
XM_017009075.2:c.167-20210G>A XP_016864564.1:n.167-20210G>A
NM_001332.4:c.742G>A MANE Select NP_001323.1:p.Ala248Thr
NM_001288717.2:c.-123+11931G>A NP_001275646.1:n.-123+11931G>A
NR_109988.2:n.1033-20210G>A
NM_001364128.2:c.167-20210G>A NP_001351057.1:n.167-20210G>A