Canonical Allele Identifier: CA359282354
Gene: CTNND2 HGNC NCBI

Linked Data

gnomAD v4: 5-11385207-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11385207T>A , CM000667.2:g.11385207T>A GRCh38
NC_000005.9:g.11385319T>A , CM000667.1:g.11385319T>A GRCh37
NC_000005.8:g.11438319T>A NCBI36
NG_023544.1:g.523792A>T
NG_023544.2:g.523792A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-20317A>T ENSP00000516315.1:n.167-20317A>T
ENST00000304623.13:c.635A>T MANE Select ENSP00000307134.8:p.His212Leu
ENST00000304623.12:c.635A>T ENSP00000307134.8:p.His212Leu
ENST00000502551.5:c.398-20317A>T ENSP00000422389.1:n.398-20317A>T
ENST00000503622.5:c.167-20317A>T ENSP00000426887.1:n.167-20317A>T
ENST00000504354.5:n.217-20317A>T
ENST00000504499.5:c.612+11824A>T ENSP00000421000.1:n.612+11824A>T
ENST00000511278.5:n.542-20317A>T
ENST00000511377.5:c.362A>T ENSP00000426510.1:p.His121Leu
ENST00000513588.5:c.440-20317A>T ENSP00000421093.1:n.440-20317A>T
ENST00000513598.5:c.362A>T ENSP00000426625.1:p.His121Leu
ENST00000514132.1:n.284A>T
NM_001288715.1:c.362A>T NP_001275644.1:p.His121Leu
NM_001288716.1:c.167-20317A>T NP_001275645.1:n.167-20317A>T
NM_001288717.1:c.-123+11824A>T NP_001275646.1:n.-123+11824A>T
NM_001332.3:c.635A>T NP_001323.1:p.His212Leu
NR_109988.1:n.630-20317A>T
XM_005248251.2:c.635A>T XP_005248308.1:p.His212Leu
XM_005248252.1:c.593A>T XP_005248309.1:p.His198Leu
XM_005248253.1:c.362A>T XP_005248310.1:p.His121Leu
XM_011513967.1:c.362A>T XP_011512269.1:p.His121Leu
NM_001364128.1:c.167-20317A>T NP_001351057.1:n.167-20317A>T
XM_005248251.3:c.635A>T XP_005248308.1:p.His212Leu
XM_005248252.2:c.593A>T XP_005248309.1:p.His198Leu
XM_011513967.2:c.362A>T XP_011512269.1:p.His121Leu
XM_017009072.1:c.440-20317A>T XP_016864561.1:n.440-20317A>T
XM_017009073.1:c.398-20317A>T XP_016864562.1:n.398-20317A>T
XM_017009074.1:c.440-20317A>T XP_016864563.1:n.440-20317A>T
XM_017009075.2:c.167-20317A>T XP_016864564.1:n.167-20317A>T
NM_001332.4:c.635A>T MANE Select NP_001323.1:p.His212Leu
NM_001288717.2:c.-123+11824A>T NP_001275646.1:n.-123+11824A>T
NR_109988.2:n.1033-20317A>T
NM_001364128.2:c.167-20317A>T NP_001351057.1:n.167-20317A>T