Canonical Allele Identifier: CA2864356

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589582G>A , CM000666.2:g.15589582G>A	GRCh38
NC_000004.11:g.15591205G>A , CM000666.1:g.15591205G>A	GRCh37
NC_000004.10:g.15200303G>A	NCBI36
NG_013035.1:g.124717G>A , LRG_697:g.124717G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4217G>A MANE Select	NP_001365544.1:p.Arg1406His
ENST00000424120.6:c.4217G>A MANE Select	ENSP00000403465.1:p.Arg1406His
NM_001080522.2:c.4217G>A , LRG_697t1:c.4217G>A	NP_001073991.2:p.Arg1406His
NM_001378617.1:c.4070G>A	NP_001365546.1:p.Arg1357His
ENST00000389652.11:c.4253G>A	ENSP00000374303.8:p.Arg1418His
ENST00000389652.9:c.3715G>A
ENST00000424120.5:c.4217G>A	ENSP00000403465.1:p.Arg1406His
ENST00000503292.5:c.4217G>A	ENSP00000421809.1:p.Arg1406His
ENST00000503292.6:c.4217G>A	ENSP00000421809.1:p.Arg1406His
ENST00000506643.4:c.2545G>A
ENST00000506643.5:c.4070G>A	ENSP00000422931.2:p.Arg1357His
ENST00000514039.6:c.446G>A	ENSP00000488534.2:p.Arg149His
ENST00000634028.1:c.4023G>A	ENSP00000488669.1:n.4023G>A
ENST00000634028.2:c.4070G>A	ENSP00000488669.2:p.Arg1357His
ENST00000650860.2:c.*1714G>A	ENSP00000498775.1:n.*1714G>A
ENST00000674945.1:c.3893G>A	ENSP00000502333.1:p.Arg1298His
ENST00000675768.1:n.1437G>A
ENST00000680586.1:n.4876G>A
XM_005248177.1:c.4217G>A	XP_005248234.1:p.Arg1406His
XM_011513869.1:c.4235G>A	XP_011512171.1:p.Arg1412His
XM_011513870.1:c.4235G>A	XP_011512172.1:p.Arg1412His
XM_011513871.1:c.4088G>A	XP_011512173.1:p.Arg1363His
XM_017008482.1:c.4070G>A	XP_016863971.1:p.Arg1357His