Canonical Allele Identifier: CA359281497
Gene: CTNND2 HGNC NCBI

Linked Data

gnomAD v4: 5-11384936-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11384936C>A , CM000667.2:g.11384936C>A GRCh38
NC_000005.9:g.11385048C>A , CM000667.1:g.11385048C>A GRCh37
NC_000005.8:g.11438048C>A NCBI36
NG_023544.1:g.524063G>T
NG_023544.2:g.524063G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-20046G>T ENSP00000516315.1:n.167-20046G>T
ENST00000304623.13:c.906G>T MANE Select ENSP00000307134.8:p.Gln302His
ENST00000304623.12:c.906G>T ENSP00000307134.8:p.Gln302His
ENST00000502551.5:c.398-20046G>T ENSP00000422389.1:n.398-20046G>T
ENST00000503622.5:c.167-20046G>T ENSP00000426887.1:n.167-20046G>T
ENST00000504354.5:n.217-20046G>T
ENST00000504499.5:c.612+12095G>T ENSP00000421000.1:n.612+12095G>T
ENST00000507430.1:n.2G>T
ENST00000511278.5:n.542-20046G>T
ENST00000511377.5:c.633G>T ENSP00000426510.1:p.Gln211His
ENST00000513588.5:c.440-20046G>T ENSP00000421093.1:n.440-20046G>T
NM_001288715.1:c.633G>T NP_001275644.1:p.Gln211His
NM_001288716.1:c.167-20046G>T NP_001275645.1:n.167-20046G>T
NM_001288717.1:c.-123+12095G>T NP_001275646.1:n.-123+12095G>T
NM_001332.3:c.906G>T NP_001323.1:p.Gln302His
NR_109988.1:n.630-20046G>T
XM_005248251.2:c.906G>T XP_005248308.1:p.Gln302His
XM_005248252.1:c.864G>T XP_005248309.1:p.Gln288His
XM_005248253.1:c.633G>T XP_005248310.1:p.Gln211His
XM_011513967.1:c.633G>T XP_011512269.1:p.Gln211His
NM_001364128.1:c.167-20046G>T NP_001351057.1:n.167-20046G>T
XM_005248251.3:c.906G>T XP_005248308.1:p.Gln302His
XM_005248252.2:c.864G>T XP_005248309.1:p.Gln288His
XM_011513967.2:c.633G>T XP_011512269.1:p.Gln211His
XM_017009072.1:c.440-20046G>T XP_016864561.1:n.440-20046G>T
XM_017009073.1:c.398-20046G>T XP_016864562.1:n.398-20046G>T
XM_017009074.1:c.440-20046G>T XP_016864563.1:n.440-20046G>T
XM_017009075.2:c.167-20046G>T XP_016864564.1:n.167-20046G>T
XM_024454368.1:c.-510G>T XP_024310136.1:n.-510G>T
NM_001332.4:c.906G>T MANE Select NP_001323.1:p.Gln302His
NM_001288717.2:c.-123+12095G>T NP_001275646.1:n.-123+12095G>T
NR_109988.2:n.1033-20046G>T
NM_001364128.2:c.167-20046G>T NP_001351057.1:n.167-20046G>T