Canonical Allele Identifier: CA356428250

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15586173A>G , CM000666.2:g.15586173A>G	GRCh38
NC_000004.11:g.15587796A>G , CM000666.1:g.15587796A>G	GRCh37
NC_000004.10:g.15196894A>G	NCBI36
NG_013035.1:g.121308A>G , LRG_697:g.121308A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3992A>G MANE Select	NP_001365544.1:p.Tyr1331Cys
ENST00000424120.6:c.3992A>G MANE Select	ENSP00000403465.1:p.Tyr1331Cys
NM_001080522.2:c.3992A>G , LRG_697t1:c.3992A>G	NP_001073991.2:p.Tyr1331Cys
NM_001378617.1:c.3845A>G	NP_001365546.1:p.Tyr1282Cys
ENST00000389652.11:c.4028A>G	ENSP00000374303.8:p.Tyr1343Cys
ENST00000389652.9:c.3490A>G
ENST00000424120.5:c.3992A>G	ENSP00000403465.1:p.Tyr1331Cys
ENST00000503292.5:c.3992A>G	ENSP00000421809.1:p.Tyr1331Cys
ENST00000503292.6:c.3992A>G	ENSP00000421809.1:p.Tyr1331Cys
ENST00000506643.4:c.2320A>G
ENST00000506643.5:c.3845A>G	ENSP00000422931.2:p.Tyr1282Cys
ENST00000514039.6:c.221A>G	ENSP00000488534.2:p.Tyr74Cys
ENST00000634028.1:c.3798A>G	ENSP00000488669.1:n.3798A>G
ENST00000634028.2:c.3845A>G	ENSP00000488669.2:p.Tyr1282Cys
ENST00000650860.2:c.*1489A>G	ENSP00000498775.1:n.*1489A>G
ENST00000674945.1:c.3668A>G	ENSP00000502333.1:p.Tyr1223Cys
ENST00000675768.1:n.1212A>G
ENST00000680586.1:n.4651A>G
XM_005248177.1:c.3992A>G	XP_005248234.1:p.Tyr1331Cys
XM_011513869.1:c.4010A>G	XP_011512171.1:p.Tyr1337Cys
XM_011513870.1:c.4010A>G	XP_011512172.1:p.Tyr1337Cys
XM_011513871.1:c.3863A>G	XP_011512173.1:p.Tyr1288Cys
XM_017008482.1:c.3845A>G	XP_016863971.1:p.Tyr1282Cys