Canonical Allele Identifier: CA3200987
Gene: CTNND2 HGNC NCBI

Linked Data

dbSNP Id: rs368770402
gnomAD v2: 5-11384945-C-G
gnomAD v4: 5-11384833-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11384833C>G , CM000667.2:g.11384833C>G GRCh38
NC_000005.9:g.11384945C>G , CM000667.1:g.11384945C>G GRCh37
NC_000005.8:g.11437945C>G NCBI36
NG_023544.1:g.524166G>C
NG_023544.2:g.524166G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-19943G>C ENSP00000516315.1:n.167-19943G>C
ENST00000706272.1:c.81G>C
ENST00000304623.13:c.1009G>C MANE Select ENSP00000307134.8:p.Val337Leu
ENST00000304623.12:c.1009G>C ENSP00000307134.8:p.Val337Leu
ENST00000502551.5:c.398-19943G>C ENSP00000422389.1:n.398-19943G>C
ENST00000503622.5:c.167-19943G>C ENSP00000426887.1:n.167-19943G>C
ENST00000504354.5:n.217-19943G>C
ENST00000504499.5:c.612+12198G>C ENSP00000421000.1:n.612+12198G>C
ENST00000506735.1:n.80G>C
ENST00000507430.1:n.105G>C
ENST00000511278.5:n.542-19943G>C
ENST00000511377.5:c.736G>C ENSP00000426510.1:p.Val246Leu
ENST00000513588.5:c.440-19943G>C ENSP00000421093.1:n.440-19943G>C
NM_001288715.1:c.736G>C NP_001275644.1:p.Val246Leu
NM_001288716.1:c.167-19943G>C NP_001275645.1:n.167-19943G>C
NM_001288717.1:c.-123+12198G>C NP_001275646.1:n.-123+12198G>C
NM_001332.3:c.1009G>C NP_001323.1:p.Val337Leu
NR_109988.1:n.630-19943G>C
XM_005248251.2:c.1009G>C XP_005248308.1:p.Val337Leu
XM_005248252.1:c.967G>C XP_005248309.1:p.Val323Leu
XM_005248253.1:c.736G>C XP_005248310.1:p.Val246Leu
XM_011513967.1:c.736G>C XP_011512269.1:p.Val246Leu
NM_001364128.1:c.167-19943G>C NP_001351057.1:n.167-19943G>C
XM_005248251.3:c.1009G>C XP_005248308.1:p.Val337Leu
XM_005248252.2:c.967G>C XP_005248309.1:p.Val323Leu
XM_011513967.2:c.736G>C XP_011512269.1:p.Val246Leu
XM_017009072.1:c.440-19943G>C XP_016864561.1:n.440-19943G>C
XM_017009073.1:c.398-19943G>C XP_016864562.1:n.398-19943G>C
XM_017009074.1:c.440-19943G>C XP_016864563.1:n.440-19943G>C
XM_017009075.2:c.167-19943G>C XP_016864564.1:n.167-19943G>C
XM_024454368.1:c.-407G>C XP_024310136.1:n.-407G>C
NM_001332.4:c.1009G>C MANE Select NP_001323.1:p.Val337Leu
NM_001288717.2:c.-123+12198G>C NP_001275646.1:n.-123+12198G>C
NR_109988.2:n.1033-19943G>C
NM_001364128.2:c.167-19943G>C NP_001351057.1:n.167-19943G>C