Canonical Allele Identifier: CA3201024

Gene: CTNND2

Linked Data

• ClinVar Variation Id: 521010
• ClinVar RCV Id: RCV000624262 ; RCV001613409
• dbSNP Id: rs765655737
• ExAC: 5:11385151 G / T
• gnomAD v2: 5-11385151-G-T
• gnomAD v3: 5-11385039-G-T
• gnomAD v4: 5-11385039-G-T
• MyVariant Identifiers: chr5:g.11385151G>T (hg19) ; chr5:g.11385039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11385039G>T , CM000667.2:g.11385039G>T	GRCh38
NC_000005.9:g.11385151G>T , CM000667.1:g.11385151G>T	GRCh37
NC_000005.8:g.11438151G>T	NCBI36
NG_023544.1:g.523960C>A
NG_023544.2:g.523960C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.167-20149C>A	ENSP00000516315.1:n.167-20149C>A
ENST00000304623.13:c.803C>A MANE Select	ENSP00000307134.8:p.Pro268Gln
ENST00000304623.12:c.803C>A	ENSP00000307134.8:p.Pro268Gln
ENST00000502551.5:c.398-20149C>A	ENSP00000422389.1:n.398-20149C>A
ENST00000503622.5:c.167-20149C>A	ENSP00000426887.1:n.167-20149C>A
ENST00000504354.5:n.217-20149C>A
ENST00000504499.5:c.612+11992C>A	ENSP00000421000.1:n.612+11992C>A
ENST00000511278.5:n.542-20149C>A
ENST00000511377.5:c.530C>A	ENSP00000426510.1:p.Pro177Gln
ENST00000513588.5:c.440-20149C>A	ENSP00000421093.1:n.440-20149C>A
ENST00000513598.5:c.530C>A	ENSP00000426625.1:p.Pro177Gln
ENST00000514132.1:n.452C>A
NM_001288715.1:c.530C>A	NP_001275644.1:p.Pro177Gln
NM_001288716.1:c.167-20149C>A	NP_001275645.1:n.167-20149C>A
NM_001288717.1:c.-123+11992C>A	NP_001275646.1:n.-123+11992C>A
NM_001332.3:c.803C>A	NP_001323.1:p.Pro268Gln
NR_109988.1:n.630-20149C>A
XM_005248251.2:c.803C>A	XP_005248308.1:p.Pro268Gln
XM_005248252.1:c.761C>A	XP_005248309.1:p.Pro254Gln
XM_005248253.1:c.530C>A	XP_005248310.1:p.Pro177Gln
XM_011513967.1:c.530C>A	XP_011512269.1:p.Pro177Gln
NM_001364128.1:c.167-20149C>A	NP_001351057.1:n.167-20149C>A
XM_005248251.3:c.803C>A	XP_005248308.1:p.Pro268Gln
XM_005248252.2:c.761C>A	XP_005248309.1:p.Pro254Gln
XM_011513967.2:c.530C>A	XP_011512269.1:p.Pro177Gln
XM_017009072.1:c.440-20149C>A	XP_016864561.1:n.440-20149C>A
XM_017009073.1:c.398-20149C>A	XP_016864562.1:n.398-20149C>A
XM_017009074.1:c.440-20149C>A	XP_016864563.1:n.440-20149C>A
XM_017009075.2:c.167-20149C>A	XP_016864564.1:n.167-20149C>A
NM_001332.4:c.803C>A MANE Select	NP_001323.1:p.Pro268Gln
NM_001288717.2:c.-123+11992C>A	NP_001275646.1:n.-123+11992C>A
NR_109988.2:n.1033-20149C>A
NM_001364128.2:c.167-20149C>A	NP_001351057.1:n.167-20149C>A