Canonical Allele Identifier: CA356434648

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599686A>T , CM000666.2:g.15599686A>T	GRCh38
NC_000004.11:g.15601309A>T , CM000666.1:g.15601309A>T	GRCh37
NC_000004.10:g.15210407A>T	NCBI36
NG_013035.1:g.134821A>T , LRG_697:g.134821A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4654A>T MANE Select	NP_001365544.1:p.Lys1552Ter
ENST00000424120.6:c.4654A>T MANE Select	ENSP00000403465.1:p.Lys1552Ter
NM_001080522.2:c.4654A>T , LRG_697t1:c.4654A>T	NP_001073991.2:p.Lys1552Ter
NM_001378617.1:c.4507A>T	NP_001365546.1:p.Lys1503Ter
ENST00000389652.11:c.4690A>T	ENSP00000374303.8:p.Lys1564Ter
ENST00000389652.9:c.4152A>T
ENST00000424120.5:c.4654A>T	ENSP00000403465.1:p.Lys1552Ter
ENST00000503292.5:c.4654A>T	ENSP00000421809.1:p.Lys1552Ter
ENST00000503292.6:c.4654A>T	ENSP00000421809.1:p.Lys1552Ter
ENST00000506643.4:c.2923A>T
ENST00000506643.5:c.4507A>T	ENSP00000422931.2:p.Lys1503Ter
ENST00000514039.5:c.270A>T
ENST00000514039.6:c.760A>T	ENSP00000488534.2:p.Lys254Ter
ENST00000634028.1:c.4460A>T	ENSP00000488669.1:n.4460A>T
ENST00000634028.2:c.4448A>T	ENSP00000488669.2:n.4448A>T
ENST00000650860.2:c.*2151A>T	ENSP00000498775.1:n.*2151A>T
ENST00000674945.1:c.4330A>T	ENSP00000502333.1:p.Lys1444Ter
ENST00000680586.1:n.5313A>T
XM_005248177.1:c.4654A>T	XP_005248234.1:p.Lys1552Ter
XM_011513869.1:c.4672A>T	XP_011512171.1:p.Lys1558Ter
XM_011513870.1:c.4672A>T	XP_011512172.1:p.Lys1558Ter
XM_011513871.1:c.4525A>T	XP_011512173.1:p.Lys1509Ter
XM_017008482.1:c.4507A>T	XP_016863971.1:p.Lys1503Ter