Canonical Allele Identifier: CA3200842

Gene: CTNND2

Linked Data

• ClinVar Variation Id: 444649
• ClinVar RCV Id: RCV000512866 ; RCV003493615
• dbSNP Id: rs142843736
• ExAC: 5:11346592 T / G
• gnomAD v2: 5-11346592-T-G
• gnomAD v3: 5-11346480-T-G
• gnomAD v4: 5-11346480-T-G
• MyVariant Identifiers: chr5:g.11346592T>G (hg19) ; chr5:g.11346480T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11346480T>G , CM000667.2:g.11346480T>G	GRCh38
NC_000005.9:g.11346592T>G , CM000667.1:g.11346592T>G	GRCh37
NC_000005.8:g.11399592T>G	NCBI36
NG_023544.1:g.562519A>C
NG_023544.2:g.562519A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706271.1:c.509A>C	ENSP00000516315.1:p.Gln170Pro
ENST00000706272.1:c.592A>C
ENST00000304623.13:c.1520A>C MANE Select	ENSP00000307134.8:p.Gln507Pro
ENST00000304623.12:c.1520A>C	ENSP00000307134.8:p.Gln507Pro
ENST00000495388.6:n.605A>C
ENST00000503622.5:c.509A>C	ENSP00000426887.1:p.Gln170Pro
ENST00000504354.5:n.559A>C
ENST00000504499.5:c.*259A>C	ENSP00000421000.1:n.*259A>C
ENST00000511377.5:c.1247A>C	ENSP00000426510.1:p.Gln416Pro
ENST00000513588.5:c.782A>C	ENSP00000421093.1:p.Gln261Pro
NM_001288715.1:c.1247A>C	NP_001275644.1:p.Gln416Pro
NM_001288716.1:c.509A>C	NP_001275645.1:p.Gln170Pro
NM_001288717.1:c.221A>C	NP_001275646.1:p.Gln74Pro
NM_001332.3:c.1520A>C	NP_001323.1:p.Gln507Pro
NR_109988.1:n.972A>C
XM_005248251.2:c.1520A>C	XP_005248308.1:p.Gln507Pro
XM_005248252.1:c.1478A>C	XP_005248309.1:p.Gln493Pro
XM_005248253.1:c.1247A>C	XP_005248310.1:p.Gln416Pro
XM_011513967.1:c.1247A>C	XP_011512269.1:p.Gln416Pro
NM_001364128.1:c.509A>C	NP_001351057.1:p.Gln170Pro
XM_005248251.3:c.1520A>C	XP_005248308.1:p.Gln507Pro
XM_005248252.2:c.1478A>C	XP_005248309.1:p.Gln493Pro
XM_011513967.2:c.1247A>C	XP_011512269.1:p.Gln416Pro
XM_017009072.1:c.782A>C	XP_016864561.1:p.Gln261Pro
XM_017009073.1:c.740A>C	XP_016864562.1:p.Gln247Pro
XM_017009074.1:c.782A>C	XP_016864563.1:p.Gln261Pro
XM_017009075.2:c.509A>C	XP_016864564.1:p.Gln170Pro
XM_024454368.1:c.-44+18216A>C	XP_024310136.1:n.-44+18216A>C
NM_001332.4:c.1520A>C MANE Select	NP_001323.1:p.Gln507Pro
NM_001288717.2:c.221A>C	NP_001275646.1:p.Gln74Pro
NR_109988.2:n.1375A>C
NM_001364128.2:c.509A>C	NP_001351057.1:p.Gln170Pro