Canonical Allele Identifier: CA356432187

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15597434G>C , CM000666.2:g.15597434G>C	GRCh38
NC_000004.11:g.15599057G>C , CM000666.1:g.15599057G>C	GRCh37
NC_000004.10:g.15208155G>C	NCBI36
NG_013035.1:g.132569G>C , LRG_697:g.132569G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4465G>C MANE Select	NP_001365544.1:p.Asp1489His
ENST00000424120.6:c.4465G>C MANE Select	ENSP00000403465.1:p.Asp1489His
NM_001080522.2:c.4465G>C , LRG_697t1:c.4465G>C	NP_001073991.2:p.Asp1489His
NM_001378617.1:c.4318G>C	NP_001365546.1:p.Asp1440His
ENST00000389652.11:c.4501G>C	ENSP00000374303.8:p.Asp1501His
ENST00000389652.9:c.3963G>C
ENST00000424120.5:c.4465G>C	ENSP00000403465.1:p.Asp1489His
ENST00000503292.5:c.4465G>C	ENSP00000421809.1:p.Asp1489His
ENST00000503292.6:c.4465G>C	ENSP00000421809.1:p.Asp1489His
ENST00000506643.4:c.2734G>C
ENST00000506643.5:c.4318G>C	ENSP00000422931.2:p.Asp1440His
ENST00000513035.1:n.364G>C
ENST00000513035.2:n.364G>C
ENST00000514039.5:c.81G>C
ENST00000514039.6:c.571G>C	ENSP00000488534.2:p.Asp191His
ENST00000634028.1:c.4271G>C	ENSP00000488669.1:n.4271G>C
ENST00000634028.2:c.4259G>C	ENSP00000488669.2:n.4259G>C
ENST00000650860.2:c.*1962G>C	ENSP00000498775.1:n.*1962G>C
ENST00000674945.1:c.4141G>C	ENSP00000502333.1:p.Asp1381His
ENST00000680586.1:n.5124G>C
XM_005248177.1:c.4465G>C	XP_005248234.1:p.Asp1489His
XM_011513869.1:c.4483G>C	XP_011512171.1:p.Asp1495His
XM_011513870.1:c.4483G>C	XP_011512172.1:p.Asp1495His
XM_011513871.1:c.4336G>C	XP_011512173.1:p.Asp1446His
XM_017008482.1:c.4318G>C	XP_016863971.1:p.Asp1440His