Canonical Allele Identifier: CA359281400
Gene: CTNND2 HGNC NCBI

Linked Data

gnomAD v4: 5-11384891-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.11384891G>C , CM000667.2:g.11384891G>C GRCh38
NC_000005.9:g.11385003G>C , CM000667.1:g.11385003G>C GRCh37
NC_000005.8:g.11438003G>C NCBI36
NG_023544.1:g.524108C>G
NG_023544.2:g.524108C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706271.1:c.167-20001C>G ENSP00000516315.1:n.167-20001C>G
ENST00000706272.1:c.23C>G
ENST00000304623.13:c.951C>G MANE Select ENSP00000307134.8:p.Ile317Met
ENST00000304623.12:c.951C>G ENSP00000307134.8:p.Ile317Met
ENST00000502551.5:c.398-20001C>G ENSP00000422389.1:n.398-20001C>G
ENST00000503622.5:c.167-20001C>G ENSP00000426887.1:n.167-20001C>G
ENST00000504354.5:n.217-20001C>G
ENST00000504499.5:c.612+12140C>G ENSP00000421000.1:n.612+12140C>G
ENST00000506735.1:n.22C>G
ENST00000507430.1:n.47C>G
ENST00000511278.5:n.542-20001C>G
ENST00000511377.5:c.678C>G ENSP00000426510.1:p.Ile226Met
ENST00000513588.5:c.440-20001C>G ENSP00000421093.1:n.440-20001C>G
NM_001288715.1:c.678C>G NP_001275644.1:p.Ile226Met
NM_001288716.1:c.167-20001C>G NP_001275645.1:n.167-20001C>G
NM_001288717.1:c.-123+12140C>G NP_001275646.1:n.-123+12140C>G
NM_001332.3:c.951C>G NP_001323.1:p.Ile317Met
NR_109988.1:n.630-20001C>G
XM_005248251.2:c.951C>G XP_005248308.1:p.Ile317Met
XM_005248252.1:c.909C>G XP_005248309.1:p.Ile303Met
XM_005248253.1:c.678C>G XP_005248310.1:p.Ile226Met
XM_011513967.1:c.678C>G XP_011512269.1:p.Ile226Met
NM_001364128.1:c.167-20001C>G NP_001351057.1:n.167-20001C>G
XM_005248251.3:c.951C>G XP_005248308.1:p.Ile317Met
XM_005248252.2:c.909C>G XP_005248309.1:p.Ile303Met
XM_011513967.2:c.678C>G XP_011512269.1:p.Ile226Met
XM_017009072.1:c.440-20001C>G XP_016864561.1:n.440-20001C>G
XM_017009073.1:c.398-20001C>G XP_016864562.1:n.398-20001C>G
XM_017009074.1:c.440-20001C>G XP_016864563.1:n.440-20001C>G
XM_017009075.2:c.167-20001C>G XP_016864564.1:n.167-20001C>G
XM_024454368.1:c.-465C>G XP_024310136.1:n.-465C>G
NM_001332.4:c.951C>G MANE Select NP_001323.1:p.Ile317Met
NM_001288717.2:c.-123+12140C>G NP_001275646.1:n.-123+12140C>G
NR_109988.2:n.1033-20001C>G
NM_001364128.2:c.167-20001C>G NP_001351057.1:n.167-20001C>G