Canonical Allele Identifier: CA92527555

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589594G>A , CM000666.2:g.15589594G>A	GRCh38
NC_000004.11:g.15591217G>A , CM000666.1:g.15591217G>A	GRCh37
NC_000004.10:g.15200315G>A	NCBI36
NG_013035.1:g.124729G>A , LRG_697:g.124729G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4229G>A MANE Select	NP_001365544.1:p.Trp1410Ter
ENST00000424120.6:c.4229G>A MANE Select	ENSP00000403465.1:p.Trp1410Ter
NM_001080522.2:c.4229G>A , LRG_697t1:c.4229G>A	NP_001073991.2:p.Trp1410Ter
NM_001378617.1:c.4082G>A	NP_001365546.1:p.Trp1361Ter
ENST00000389652.11:c.4265G>A	ENSP00000374303.8:p.Trp1422Ter
ENST00000389652.9:c.3727G>A
ENST00000424120.5:c.4229G>A	ENSP00000403465.1:p.Trp1410Ter
ENST00000503292.5:c.4229G>A	ENSP00000421809.1:p.Trp1410Ter
ENST00000503292.6:c.4229G>A	ENSP00000421809.1:p.Trp1410Ter
ENST00000506643.4:c.2557G>A
ENST00000506643.5:c.4082G>A	ENSP00000422931.2:p.Trp1361Ter
ENST00000514039.6:c.458G>A	ENSP00000488534.2:p.Trp153Ter
ENST00000634028.1:c.4035G>A	ENSP00000488669.1:n.4035G>A
ENST00000634028.2:c.4082G>A	ENSP00000488669.2:p.Trp1361Ter
ENST00000650860.2:c.*1726G>A	ENSP00000498775.1:n.*1726G>A
ENST00000674945.1:c.3905G>A	ENSP00000502333.1:p.Trp1302Ter
ENST00000675768.1:n.1449G>A
ENST00000680586.1:n.4888G>A
XM_005248177.1:c.4229G>A	XP_005248234.1:p.Trp1410Ter
XM_011513869.1:c.4247G>A	XP_011512171.1:p.Trp1416Ter
XM_011513870.1:c.4247G>A	XP_011512172.1:p.Trp1416Ter
XM_011513871.1:c.4100G>A	XP_011512173.1:p.Trp1367Ter
XM_017008482.1:c.4082G>A	XP_016863971.1:p.Trp1361Ter