Canonical Allele Identifier: CA359281383
Gene: CTNND2 HGNC NCBI

Linked Data

gnomAD v4: 5-11384884-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11384884C>G , CM000667.2:g.11384884C>G GRCh38
NC_000005.9:g.11384996C>G , CM000667.1:g.11384996C>G GRCh37
NC_000005.8:g.11437996C>G NCBI36
NG_023544.1:g.524115G>C
NG_023544.2:g.524115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-19994G>C ENSP00000516315.1:n.167-19994G>C
ENST00000706272.1:c.30G>C
ENST00000304623.13:c.958G>C MANE Select ENSP00000307134.8:p.Val320Leu
ENST00000304623.12:c.958G>C ENSP00000307134.8:p.Val320Leu
ENST00000502551.5:c.398-19994G>C ENSP00000422389.1:n.398-19994G>C
ENST00000503622.5:c.167-19994G>C ENSP00000426887.1:n.167-19994G>C
ENST00000504354.5:n.217-19994G>C
ENST00000504499.5:c.612+12147G>C ENSP00000421000.1:n.612+12147G>C
ENST00000506735.1:n.29G>C
ENST00000507430.1:n.54G>C
ENST00000511278.5:n.542-19994G>C
ENST00000511377.5:c.685G>C ENSP00000426510.1:p.Val229Leu
ENST00000513588.5:c.440-19994G>C ENSP00000421093.1:n.440-19994G>C
NM_001288715.1:c.685G>C NP_001275644.1:p.Val229Leu
NM_001288716.1:c.167-19994G>C NP_001275645.1:n.167-19994G>C
NM_001288717.1:c.-123+12147G>C NP_001275646.1:n.-123+12147G>C
NM_001332.3:c.958G>C NP_001323.1:p.Val320Leu
NR_109988.1:n.630-19994G>C
XM_005248251.2:c.958G>C XP_005248308.1:p.Val320Leu
XM_005248252.1:c.916G>C XP_005248309.1:p.Val306Leu
XM_005248253.1:c.685G>C XP_005248310.1:p.Val229Leu
XM_011513967.1:c.685G>C XP_011512269.1:p.Val229Leu
NM_001364128.1:c.167-19994G>C NP_001351057.1:n.167-19994G>C
XM_005248251.3:c.958G>C XP_005248308.1:p.Val320Leu
XM_005248252.2:c.916G>C XP_005248309.1:p.Val306Leu
XM_011513967.2:c.685G>C XP_011512269.1:p.Val229Leu
XM_017009072.1:c.440-19994G>C XP_016864561.1:n.440-19994G>C
XM_017009073.1:c.398-19994G>C XP_016864562.1:n.398-19994G>C
XM_017009074.1:c.440-19994G>C XP_016864563.1:n.440-19994G>C
XM_017009075.2:c.167-19994G>C XP_016864564.1:n.167-19994G>C
XM_024454368.1:c.-458G>C XP_024310136.1:n.-458G>C
NM_001332.4:c.958G>C MANE Select NP_001323.1:p.Val320Leu
NM_001288717.2:c.-123+12147G>C NP_001275646.1:n.-123+12147G>C
NR_109988.2:n.1033-19994G>C
NM_001364128.2:c.167-19994G>C NP_001351057.1:n.167-19994G>C