Canonical Allele Identifier: CA2578048115

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567685del , CM000666.2:g.15567685del	GRCh38
NC_000004.11:g.15569308del , CM000666.1:g.15569308del	GRCh37
NC_000004.10:g.15178406del	NCBI36
NG_013035.1:g.102820del , LRG_697:g.102820del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.3312del	ENSP00000374303.8:p.Arg1105ValfsTer4
ENST00000424120.6:c.3297del MANE Select	ENSP00000403465.1:p.Arg1100ValfsTer4
ENST00000503292.6:c.3297del	ENSP00000421809.1:p.Arg1100ValfsTer4
ENST00000506643.5:c.3150del	ENSP00000422931.2:p.Arg1051ValfsTer4
ENST00000634028.2:c.3150del	ENSP00000488669.2:p.Arg1051ValfsTer4
ENST00000650860.2:c.*303del	ENSP00000498775.1:n.*303del
ENST00000674945.1:c.3150del	ENSP00000502333.1:p.Arg1051ValfsTer4
ENST00000675619.1:n.4108del
ENST00000675768.1:n.517del
ENST00000676337.1:c.*303del	ENSP00000501728.1:n.*303del
ENST00000680586.1:n.3956del
ENST00000389652.9:c.2774del
ENST00000424120.5:c.3297del	ENSP00000403465.1:p.Arg1100ValfsTer4
ENST00000503292.5:c.3297del	ENSP00000421809.1:p.Arg1100ValfsTer4
ENST00000506643.4:c.1625del
ENST00000634028.1:c.3280del	ENSP00000488669.1:n.3280del
NM_001080522.2:c.3297del , LRG_697t1:c.3297del	NP_001073991.2:p.Arg1100ValfsTer4
XM_005248177.1:c.3297del	XP_005248234.1:p.Arg1100ValfsTer4
XM_011513869.1:c.3297del	XP_011512171.1:p.Arg1100ValfsTer4
XM_011513870.1:c.3297del	XP_011512172.1:p.Arg1100ValfsTer4
XM_011513871.1:c.3150del	XP_011512173.1:p.Arg1051ValfsTer4
XM_017008482.1:c.3150del	XP_016863971.1:p.Arg1051ValfsTer4
XR_001741296.1:n.3542del
NM_001378615.1:c.3297del MANE Select	NP_001365544.1:p.Arg1100ValfsTer4
NM_001378617.1:c.3150del	NP_001365546.1:p.Arg1051ValfsTer4