Canonical Allele Identifier: CA356433891

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599582C>T , CM000666.2:g.15599582C>T	GRCh38
NC_000004.11:g.15601205C>T , CM000666.1:g.15601205C>T	GRCh37
NC_000004.10:g.15210303C>T	NCBI36
NG_013035.1:g.134717C>T , LRG_697:g.134717C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4550C>T MANE Select	NP_001365544.1:p.Thr1517Ile
ENST00000424120.6:c.4550C>T MANE Select	ENSP00000403465.1:p.Thr1517Ile
NM_001080522.2:c.4550C>T , LRG_697t1:c.4550C>T	NP_001073991.2:p.Thr1517Ile
NM_001378617.1:c.4403C>T	NP_001365546.1:p.Thr1468Ile
ENST00000389652.11:c.4586C>T	ENSP00000374303.8:p.Thr1529Ile
ENST00000389652.9:c.4048C>T
ENST00000424120.5:c.4550C>T	ENSP00000403465.1:p.Thr1517Ile
ENST00000503292.5:c.4550C>T	ENSP00000421809.1:p.Thr1517Ile
ENST00000503292.6:c.4550C>T	ENSP00000421809.1:p.Thr1517Ile
ENST00000506643.4:c.2819C>T
ENST00000506643.5:c.4403C>T	ENSP00000422931.2:p.Thr1468Ile
ENST00000514039.5:c.166C>T
ENST00000514039.6:c.656C>T	ENSP00000488534.2:p.Thr219Ile
ENST00000634028.1:c.4356C>T	ENSP00000488669.1:n.4356C>T
ENST00000634028.2:c.4344C>T	ENSP00000488669.2:n.4344C>T
ENST00000650860.2:c.*2047C>T	ENSP00000498775.1:n.*2047C>T
ENST00000674945.1:c.4226C>T	ENSP00000502333.1:p.Thr1409Ile
ENST00000680586.1:n.5209C>T
XM_005248177.1:c.4550C>T	XP_005248234.1:p.Thr1517Ile
XM_011513869.1:c.4568C>T	XP_011512171.1:p.Thr1523Ile
XM_011513870.1:c.4568C>T	XP_011512172.1:p.Thr1523Ile
XM_011513871.1:c.4421C>T	XP_011512173.1:p.Thr1474Ile
XM_017008482.1:c.4403C>T	XP_016863971.1:p.Thr1468Ile