Canonical Allele Identifier: CA359281656

Gene: CTNND2

Linked Data

• dbSNP Id: rs1369977452
• gnomAD v2: 5-11385127-G-A
• gnomAD v4: 5-11385015-G-A
• MyVariant Identifiers: chr5:g.11385127G>A (hg19) ; chr5:g.11385015G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.11385015G>A , CM000667.2:g.11385015G>A	GRCh38
NC_000005.9:g.11385127G>A , CM000667.1:g.11385127G>A	GRCh37
NC_000005.8:g.11438127G>A	NCBI36
NG_023544.1:g.523984C>T
NG_023544.2:g.523984C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706271.1:c.167-20125C>T	ENSP00000516315.1:n.167-20125C>T
ENST00000304623.13:c.827C>T MANE Select	ENSP00000307134.8:p.Ser276Leu
ENST00000304623.12:c.827C>T	ENSP00000307134.8:p.Ser276Leu
ENST00000502551.5:c.398-20125C>T	ENSP00000422389.1:n.398-20125C>T
ENST00000503622.5:c.167-20125C>T	ENSP00000426887.1:n.167-20125C>T
ENST00000504354.5:n.217-20125C>T
ENST00000504499.5:c.612+12016C>T	ENSP00000421000.1:n.612+12016C>T
ENST00000511278.5:n.542-20125C>T
ENST00000511377.5:c.554C>T	ENSP00000426510.1:p.Ser185Leu
ENST00000513588.5:c.440-20125C>T	ENSP00000421093.1:n.440-20125C>T
ENST00000514132.1:n.476C>T
NM_001288715.1:c.554C>T	NP_001275644.1:p.Ser185Leu
NM_001288716.1:c.167-20125C>T	NP_001275645.1:n.167-20125C>T
NM_001288717.1:c.-123+12016C>T	NP_001275646.1:n.-123+12016C>T
NM_001332.3:c.827C>T	NP_001323.1:p.Ser276Leu
NR_109988.1:n.630-20125C>T
XM_005248251.2:c.827C>T	XP_005248308.1:p.Ser276Leu
XM_005248252.1:c.785C>T	XP_005248309.1:p.Ser262Leu
XM_005248253.1:c.554C>T	XP_005248310.1:p.Ser185Leu
XM_011513967.1:c.554C>T	XP_011512269.1:p.Ser185Leu
NM_001364128.1:c.167-20125C>T	NP_001351057.1:n.167-20125C>T
XM_005248251.3:c.827C>T	XP_005248308.1:p.Ser276Leu
XM_005248252.2:c.785C>T	XP_005248309.1:p.Ser262Leu
XM_011513967.2:c.554C>T	XP_011512269.1:p.Ser185Leu
XM_017009072.1:c.440-20125C>T	XP_016864561.1:n.440-20125C>T
XM_017009073.1:c.398-20125C>T	XP_016864562.1:n.398-20125C>T
XM_017009074.1:c.440-20125C>T	XP_016864563.1:n.440-20125C>T
XM_017009075.2:c.167-20125C>T	XP_016864564.1:n.167-20125C>T
NM_001332.4:c.827C>T MANE Select	NP_001323.1:p.Ser276Leu
NM_001288717.2:c.-123+12016C>T	NP_001275646.1:n.-123+12016C>T
NR_109988.2:n.1033-20125C>T
NM_001364128.2:c.167-20125C>T	NP_001351057.1:n.167-20125C>T