Canonical Allele Identifier: CA557858222

Gene: CTNND2

Linked Data

• dbSNP Id: rs1561314963
• gnomAD v2: 5-11385212-C-CG
• gnomAD v4: 5-11385100-C-CG
• MyVariant Identifiers: chr5:g.11385212_11385213insG (hg19) ; chr5:g.11385100_11385101insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11385102dup , CM000667.2:g.11385102dup	GRCh38
NC_000005.9:g.11385214dup , CM000667.1:g.11385214dup	GRCh37
NC_000005.8:g.11438214dup	NCBI36
NG_023544.1:g.523898dup
NG_023544.2:g.523898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.167-20211dup	ENSP00000516315.1:n.167-20211dup
ENST00000304623.13:c.741dup MANE Select	ENSP00000307134.8:p.Ala248ArgfsTer?
ENST00000304623.12:c.741dup	ENSP00000307134.8:p.Ala248ArgfsTer?
ENST00000502551.5:c.398-20211dup	ENSP00000422389.1:n.398-20211dup
ENST00000503622.5:c.167-20211dup	ENSP00000426887.1:n.167-20211dup
ENST00000504354.5:n.217-20211dup
ENST00000504499.5:c.612+11930dup	ENSP00000421000.1:n.612+11930dup
ENST00000511278.5:n.542-20211dup
ENST00000511377.5:c.468dup	ENSP00000426510.1:p.Ala157ArgfsTer?
ENST00000513588.5:c.440-20211dup	ENSP00000421093.1:n.440-20211dup
ENST00000513598.5:c.468dup	ENSP00000426625.1:p.Ala157ArgfsTer?
ENST00000514132.1:n.390dup
NM_001288715.1:c.468dup	NP_001275644.1:p.Ala157ArgfsTer?
NM_001288716.1:c.167-20211dup	NP_001275645.1:n.167-20211dup
NM_001288717.1:c.-123+11930dup	NP_001275646.1:n.-123+11930dup
NM_001332.3:c.741dup	NP_001323.1:p.Ala248ArgfsTer?
NR_109988.1:n.630-20211dup
XM_005248251.2:c.741dup	XP_005248308.1:p.Ala248ArgfsTer?
XM_005248252.1:c.699dup	XP_005248309.1:p.Ala234ArgfsTer?
XM_005248253.1:c.468dup	XP_005248310.1:p.Ala157ArgfsTer?
XM_011513967.1:c.468dup	XP_011512269.1:p.Ala157ArgfsTer?
NM_001364128.1:c.167-20211dup	NP_001351057.1:n.167-20211dup
XM_005248251.3:c.741dup	XP_005248308.1:p.Ala248ArgfsTer?
XM_005248252.2:c.699dup	XP_005248309.1:p.Ala234ArgfsTer?
XM_011513967.2:c.468dup	XP_011512269.1:p.Ala157ArgfsTer?
XM_017009072.1:c.440-20211dup	XP_016864561.1:n.440-20211dup
XM_017009073.1:c.398-20211dup	XP_016864562.1:n.398-20211dup
XM_017009074.1:c.440-20211dup	XP_016864563.1:n.440-20211dup
XM_017009075.2:c.167-20211dup	XP_016864564.1:n.167-20211dup
NM_001332.4:c.741dup MANE Select	NP_001323.1:p.Ala248ArgfsTer?
NM_001288717.2:c.-123+11930dup	NP_001275646.1:n.-123+11930dup
NR_109988.2:n.1033-20211dup
NM_001364128.2:c.167-20211dup	NP_001351057.1:n.167-20211dup