Canonical Allele Identifier: CA150879

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596154T>C , CM000666.2:g.15596154T>C	GRCh38
NC_000004.11:g.15597777T>C , CM000666.1:g.15597777T>C	GRCh37
NC_000004.10:g.15206875T>C	NCBI36
NG_013035.1:g.131289T>C , LRG_697:g.131289T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4384T>C MANE Select	NP_001365544.1:p.Trp1462Arg
ENST00000424120.6:c.4384T>C MANE Select	ENSP00000403465.1:p.Trp1462Arg
NM_001080522.2:c.4384T>C , LRG_697t1:c.4384T>C	NP_001073991.2:p.Trp1462Arg
NM_001378617.1:c.4237T>C	NP_001365546.1:p.Trp1413Arg
ENST00000389652.11:c.4420T>C	ENSP00000374303.8:p.Trp1474Arg
ENST00000389652.9:c.3882T>C
ENST00000424120.5:c.4384T>C	ENSP00000403465.1:p.Trp1462Arg
ENST00000503292.5:c.4384T>C	ENSP00000421809.1:p.Trp1462Arg
ENST00000503292.6:c.4384T>C	ENSP00000421809.1:p.Trp1462Arg
ENST00000506643.4:c.2653T>C
ENST00000506643.5:c.4237T>C	ENSP00000422931.2:p.Trp1413Arg
ENST00000513035.1:n.283T>C
ENST00000513035.2:n.283T>C
ENST00000514039.5:c.54-1253T>C
ENST00000514039.6:c.544-1253T>C	ENSP00000488534.2:n.544-1253T>C
ENST00000634028.1:c.4190T>C	ENSP00000488669.1:n.4190T>C
ENST00000634028.2:c.4178T>C	ENSP00000488669.2:p.Met1393Thr
ENST00000650860.2:c.*1881T>C	ENSP00000498775.1:n.*1881T>C
ENST00000674945.1:c.4060T>C	ENSP00000502333.1:p.Trp1354Arg
ENST00000680586.1:n.5043T>C
XM_005248177.1:c.4384T>C	XP_005248234.1:p.Trp1462Arg
XM_011513869.1:c.4402T>C	XP_011512171.1:p.Trp1468Arg
XM_011513870.1:c.4402T>C	XP_011512172.1:p.Trp1468Arg
XM_011513871.1:c.4255T>C	XP_011512173.1:p.Trp1419Arg
XM_017008482.1:c.4237T>C	XP_016863971.1:p.Trp1413Arg