Canonical Allele Identifier: CA915943289

Gene: CTNND2

Linked Data

• ClinVar Variation Id: 817476
• ClinVar RCV Id: RCV001008606
• dbSNP Id: rs1581078962
• gnomAD v4: 5-11385093-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11385094del , CM000667.2:g.11385094del	GRCh38
NC_000005.9:g.11385206del , CM000667.1:g.11385206del	GRCh37
NC_000005.8:g.11438206del	NCBI36
NG_023544.1:g.523905del
NG_023544.2:g.523905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.167-20204del	ENSP00000516315.1:n.167-20204del
ENST00000304623.13:c.748del MANE Select	ENSP00000307134.8:p.Ala250ProfsTer?
ENST00000304623.12:c.748del	ENSP00000307134.8:p.Ala250ProfsTer?
ENST00000502551.5:c.398-20204del	ENSP00000422389.1:n.398-20204del
ENST00000503622.5:c.167-20204del	ENSP00000426887.1:n.167-20204del
ENST00000504354.5:n.217-20204del
ENST00000504499.5:c.612+11937del	ENSP00000421000.1:n.612+11937del
ENST00000511278.5:n.542-20204del
ENST00000511377.5:c.475del	ENSP00000426510.1:p.Ala159ProfsTer?
ENST00000513588.5:c.440-20204del	ENSP00000421093.1:n.440-20204del
ENST00000513598.5:c.475del	ENSP00000426625.1:p.Ala159ProfsTer?
ENST00000514132.1:n.397del
NM_001288715.1:c.475del	NP_001275644.1:p.Ala159ProfsTer?
NM_001288716.1:c.167-20204del	NP_001275645.1:n.167-20204del
NM_001288717.1:c.-123+11937del	NP_001275646.1:n.-123+11937del
NM_001332.3:c.748del	NP_001323.1:p.Ala250ProfsTer?
NR_109988.1:n.630-20204del
XM_005248251.2:c.748del	XP_005248308.1:p.Ala250ProfsTer?
XM_005248252.1:c.706del	XP_005248309.1:p.Ala236ProfsTer?
XM_005248253.1:c.475del	XP_005248310.1:p.Ala159ProfsTer?
XM_011513967.1:c.475del	XP_011512269.1:p.Ala159ProfsTer?
NM_001364128.1:c.167-20204del	NP_001351057.1:n.167-20204del
XM_005248251.3:c.748del	XP_005248308.1:p.Ala250ProfsTer?
XM_005248252.2:c.706del	XP_005248309.1:p.Ala236ProfsTer?
XM_011513967.2:c.475del	XP_011512269.1:p.Ala159ProfsTer?
XM_017009072.1:c.440-20204del	XP_016864561.1:n.440-20204del
XM_017009073.1:c.398-20204del	XP_016864562.1:n.398-20204del
XM_017009074.1:c.440-20204del	XP_016864563.1:n.440-20204del
XM_017009075.2:c.167-20204del	XP_016864564.1:n.167-20204del
NM_001332.4:c.748del MANE Select	NP_001323.1:p.Ala250ProfsTer?
NM_001288717.2:c.-123+11937del	NP_001275646.1:n.-123+11937del
NR_109988.2:n.1033-20204del
NM_001364128.2:c.167-20204del	NP_001351057.1:n.167-20204del