Canonical Allele Identifier: CA356433654

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599545A>T , CM000666.2:g.15599545A>T	GRCh38
NC_000004.11:g.15601168A>T , CM000666.1:g.15601168A>T	GRCh37
NC_000004.10:g.15210266A>T	NCBI36
NG_013035.1:g.134680A>T , LRG_697:g.134680A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4513A>T MANE Select	NP_001365544.1:p.Lys1505Ter
ENST00000424120.6:c.4513A>T MANE Select	ENSP00000403465.1:p.Lys1505Ter
NM_001080522.2:c.4513A>T , LRG_697t1:c.4513A>T	NP_001073991.2:p.Lys1505Ter
NM_001378617.1:c.4366A>T	NP_001365546.1:p.Lys1456Ter
ENST00000389652.11:c.4549A>T	ENSP00000374303.8:p.Lys1517Ter
ENST00000389652.9:c.4011A>T
ENST00000424120.5:c.4513A>T	ENSP00000403465.1:p.Lys1505Ter
ENST00000503292.5:c.4513A>T	ENSP00000421809.1:p.Lys1505Ter
ENST00000503292.6:c.4513A>T	ENSP00000421809.1:p.Lys1505Ter
ENST00000506643.4:c.2782A>T
ENST00000506643.5:c.4366A>T	ENSP00000422931.2:p.Lys1456Ter
ENST00000514039.5:c.129A>T
ENST00000514039.6:c.619A>T	ENSP00000488534.2:p.Lys207Ter
ENST00000634028.1:c.4319A>T	ENSP00000488669.1:n.4319A>T
ENST00000634028.2:c.4307A>T	ENSP00000488669.2:n.4307A>T
ENST00000650860.2:c.*2010A>T	ENSP00000498775.1:n.*2010A>T
ENST00000674945.1:c.4189A>T	ENSP00000502333.1:p.Lys1397Ter
ENST00000680586.1:n.5172A>T
XM_005248177.1:c.4513A>T	XP_005248234.1:p.Lys1505Ter
XM_011513869.1:c.4531A>T	XP_011512171.1:p.Lys1511Ter
XM_011513870.1:c.4531A>T	XP_011512172.1:p.Lys1511Ter
XM_011513871.1:c.4384A>T	XP_011512173.1:p.Lys1462Ter
XM_017008482.1:c.4366A>T	XP_016863971.1:p.Lys1456Ter