Canonical Allele Identifier: CA10602943

Gene: CTNND2

Linked Data

• ClinVar Variation Id: 280258
• ClinVar RCV Id: RCV000310935 ; RCV003389050
• dbSNP Id: rs886041494
• gnomAD v4: 5-11082831-G-A
• MyVariant Identifiers: chr5:g.11082943G>A (hg19) ; chr5:g.11082831G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11082831G>A , CM000667.2:g.11082831G>A	GRCh38
NC_000005.9:g.11082943G>A , CM000667.1:g.11082943G>A	GRCh37
NC_000005.8:g.11135943G>A	NCBI36
NG_023544.1:g.826168C>T
NG_023544.2:g.826168C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.1717C>T	ENSP00000516315.1:p.Arg573Ter
ENST00000706272.1:c.1800C>T
ENST00000304623.13:c.2653C>T MANE Select	ENSP00000307134.8:p.Arg885Ter
ENST00000304623.12:c.2653C>T	ENSP00000307134.8:p.Arg885Ter
ENST00000458100.6:c.-61C>T	ENSP00000391155.3:n.-61C>T
ENST00000495388.6:n.1738C>T
ENST00000503622.5:c.1642C>T	ENSP00000426887.1:p.Arg548Ter
ENST00000504499.5:c.*1392C>T	ENSP00000421000.1:n.*1392C>T
ENST00000511377.5:c.2380C>T	ENSP00000426510.1:p.Arg794Ter
ENST00000513588.5:c.1990C>T	ENSP00000421093.1:p.Arg664Ter
NM_001288715.1:c.2380C>T	NP_001275644.1:p.Arg794Ter
NM_001288716.1:c.1642C>T	NP_001275645.1:p.Arg548Ter
NM_001288717.1:c.1354C>T	NP_001275646.1:p.Arg452Ter
NM_001332.3:c.2653C>T	NP_001323.1:p.Arg885Ter
NR_109988.1:n.2180C>T
XM_005248251.2:c.2728C>T	XP_005248308.1:p.Arg910Ter
XM_005248252.1:c.2686C>T	XP_005248309.1:p.Arg896Ter
XM_005248253.1:c.2455C>T	XP_005248310.1:p.Arg819Ter
XM_011513967.1:c.2455C>T	XP_011512269.1:p.Arg819Ter
NM_001364128.1:c.1717C>T	NP_001351057.1:p.Arg573Ter
XM_005248251.3:c.2728C>T	XP_005248308.1:p.Arg910Ter
XM_005248252.2:c.2686C>T	XP_005248309.1:p.Arg896Ter
XM_011513967.2:c.2455C>T	XP_011512269.1:p.Arg819Ter
XM_017009072.1:c.1990C>T	XP_016864561.1:p.Arg664Ter
XM_017009073.1:c.1948C>T	XP_016864562.1:p.Arg650Ter
XM_017009074.1:c.1915C>T	XP_016864563.1:p.Arg639Ter
XM_017009075.2:c.1717C>T	XP_016864564.1:p.Arg573Ter
XM_024454368.1:c.982C>T	XP_024310136.1:p.Arg328Ter
NM_001332.4:c.2653C>T MANE Select	NP_001323.1:p.Arg885Ter
NM_001288717.2:c.1354C>T	NP_001275646.1:p.Arg452Ter
NR_109988.2:n.2583C>T
NM_001364128.2:c.1717C>T	NP_001351057.1:p.Arg573Ter