Canonical Allele Identifier: CA2864283

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15586169C>T , CM000666.2:g.15586169C>T	GRCh38
NC_000004.11:g.15587792C>T , CM000666.1:g.15587792C>T	GRCh37
NC_000004.10:g.15196890C>T	NCBI36
NG_013035.1:g.121304C>T , LRG_697:g.121304C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3988C>T MANE Select	NP_001365544.1:p.Arg1330Ter
ENST00000424120.6:c.3988C>T MANE Select	ENSP00000403465.1:p.Arg1330Ter
NM_001080522.2:c.3988C>T , LRG_697t1:c.3988C>T	NP_001073991.2:p.Arg1330Ter
NM_001378617.1:c.3841C>T	NP_001365546.1:p.Arg1281Ter
ENST00000389652.11:c.4024C>T	ENSP00000374303.8:p.Arg1342Ter
ENST00000389652.9:c.3486C>T
ENST00000424120.5:c.3988C>T	ENSP00000403465.1:p.Arg1330Ter
ENST00000503292.5:c.3988C>T	ENSP00000421809.1:p.Arg1330Ter
ENST00000503292.6:c.3988C>T	ENSP00000421809.1:p.Arg1330Ter
ENST00000506643.4:c.2316C>T
ENST00000506643.5:c.3841C>T	ENSP00000422931.2:p.Arg1281Ter
ENST00000514039.6:c.217C>T	ENSP00000488534.2:p.Arg73Ter
ENST00000634028.1:c.3794C>T	ENSP00000488669.1:n.3794C>T
ENST00000634028.2:c.3841C>T	ENSP00000488669.2:p.Arg1281Ter
ENST00000650860.2:c.*1485C>T	ENSP00000498775.1:n.*1485C>T
ENST00000674945.1:c.3664C>T	ENSP00000502333.1:p.Arg1222Ter
ENST00000675768.1:n.1208C>T
ENST00000680586.1:n.4647C>T
XM_005248177.1:c.3988C>T	XP_005248234.1:p.Arg1330Ter
XM_011513869.1:c.4006C>T	XP_011512171.1:p.Arg1336Ter
XM_011513870.1:c.4006C>T	XP_011512172.1:p.Arg1336Ter
XM_011513871.1:c.3859C>T	XP_011512173.1:p.Arg1287Ter
XM_017008482.1:c.3841C>T	XP_016863971.1:p.Arg1281Ter