Canonical Allele Identifier: CA92536417

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599615G>A , CM000666.2:g.15599615G>A	GRCh38
NC_000004.11:g.15601238G>A , CM000666.1:g.15601238G>A	GRCh37
NC_000004.10:g.15210336G>A	NCBI36
NG_013035.1:g.134750G>A , LRG_697:g.134750G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4583G>A MANE Select	NP_001365544.1:p.Arg1528His
ENST00000424120.6:c.4583G>A MANE Select	ENSP00000403465.1:p.Arg1528His
NM_001080522.2:c.4583G>A , LRG_697t1:c.4583G>A	NP_001073991.2:p.Arg1528His
NM_001378617.1:c.4436G>A	NP_001365546.1:p.Arg1479His
ENST00000389652.11:c.4619G>A	ENSP00000374303.8:p.Arg1540His
ENST00000389652.9:c.4081G>A
ENST00000424120.5:c.4583G>A	ENSP00000403465.1:p.Arg1528His
ENST00000503292.5:c.4583G>A	ENSP00000421809.1:p.Arg1528His
ENST00000503292.6:c.4583G>A	ENSP00000421809.1:p.Arg1528His
ENST00000506643.4:c.2852G>A
ENST00000506643.5:c.4436G>A	ENSP00000422931.2:p.Arg1479His
ENST00000514039.5:c.199G>A
ENST00000514039.6:c.689G>A	ENSP00000488534.2:p.Arg230His
ENST00000634028.1:c.4389G>A	ENSP00000488669.1:n.4389G>A
ENST00000634028.2:c.4377G>A	ENSP00000488669.2:n.4377G>A
ENST00000650860.2:c.*2080G>A	ENSP00000498775.1:n.*2080G>A
ENST00000674945.1:c.4259G>A	ENSP00000502333.1:p.Arg1420His
ENST00000680586.1:n.5242G>A
XM_005248177.1:c.4583G>A	XP_005248234.1:p.Arg1528His
XM_011513869.1:c.4601G>A	XP_011512171.1:p.Arg1534His
XM_011513870.1:c.4601G>A	XP_011512172.1:p.Arg1534His
XM_011513871.1:c.4454G>A	XP_011512173.1:p.Arg1485His
XM_017008482.1:c.4436G>A	XP_016863971.1:p.Arg1479His