Canonical Allele Identifier: CA2864409

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599565G>C , CM000666.2:g.15599565G>C	GRCh38
NC_000004.11:g.15601188G>C , CM000666.1:g.15601188G>C	GRCh37
NC_000004.10:g.15210286G>C	NCBI36
NG_013035.1:g.134700G>C , LRG_697:g.134700G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4533G>C MANE Select	NP_001365544.1:p.Trp1511Cys
ENST00000424120.6:c.4533G>C MANE Select	ENSP00000403465.1:p.Trp1511Cys
NM_001080522.2:c.4533G>C , LRG_697t1:c.4533G>C	NP_001073991.2:p.Trp1511Cys
NM_001378617.1:c.4386G>C	NP_001365546.1:p.Trp1462Cys
ENST00000389652.11:c.4569G>C	ENSP00000374303.8:p.Trp1523Cys
ENST00000389652.9:c.4031G>C
ENST00000424120.5:c.4533G>C	ENSP00000403465.1:p.Trp1511Cys
ENST00000503292.5:c.4533G>C	ENSP00000421809.1:p.Trp1511Cys
ENST00000503292.6:c.4533G>C	ENSP00000421809.1:p.Trp1511Cys
ENST00000506643.4:c.2802G>C
ENST00000506643.5:c.4386G>C	ENSP00000422931.2:p.Trp1462Cys
ENST00000514039.5:c.149G>C
ENST00000514039.6:c.639G>C	ENSP00000488534.2:p.Trp213Cys
ENST00000634028.1:c.4339G>C	ENSP00000488669.1:n.4339G>C
ENST00000634028.2:c.4327G>C	ENSP00000488669.2:n.4327G>C
ENST00000650860.2:c.*2030G>C	ENSP00000498775.1:n.*2030G>C
ENST00000674945.1:c.4209G>C	ENSP00000502333.1:p.Trp1403Cys
ENST00000680586.1:n.5192G>C
XM_005248177.1:c.4533G>C	XP_005248234.1:p.Trp1511Cys
XM_011513869.1:c.4551G>C	XP_011512171.1:p.Trp1517Cys
XM_011513870.1:c.4551G>C	XP_011512172.1:p.Trp1517Cys
XM_011513871.1:c.4404G>C	XP_011512173.1:p.Trp1468Cys
XM_017008482.1:c.4386G>C	XP_016863971.1:p.Trp1462Cys