Canonical Allele Identifier: CA2760538860
Gene: CC2D2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15510210_15510218del , CM000666.2:g.15510210_15510218del GRCh38
NC_000004.11:g.15511833_15511841del , CM000666.1:g.15511833_15511841del GRCh37
NC_000004.10:g.15120931_15120939del NCBI36
NG_013035.1:g.45345_45353del , LRG_697:g.45345_45353del

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.510_518del ENSP00000374303.8:p.Asp170_Arg173delinsGlu
ENST00000424120.6:c.510_518del MANE Select ENSP00000403465.1:p.Asp170_Arg173delinsGlu
ENST00000503292.6:c.510_518del ENSP00000421809.1:p.Asp170_Arg173delinsGlu
ENST00000506643.5:c.363_371del ENSP00000422931.2:p.Asp121_Arg124delinsGlu
ENST00000512702.6:c.510_518del ENSP00000422875.2:p.Asp170_Arg173delinsGlu
ENST00000514450.3:c.510_518del ENSP00000502062.1:p.Asp170_Arg173delinsGlu
ENST00000634028.2:c.363_371del ENSP00000488669.2:p.Asp121_Arg124delinsGlu
ENST00000650860.2:c.363_371del ENSP00000498775.1:p.Asp121_Arg124delinsGlu
ENST00000651385.1:c.363_371del ENSP00000499005.1:p.Asp121_Arg124delinsGlu
ENST00000674945.1:c.363_371del ENSP00000502333.1:p.Asp121_Arg124delinsGlu
ENST00000676337.1:c.363_371del ENSP00000501728.1:p.Asp121_Arg124delinsGlu
ENST00000424120.5:c.510_518del ENSP00000403465.1:p.Asp170_Arg173delinsGlu
ENST00000503292.5:c.510_518del ENSP00000421809.1:p.Asp170_Arg173delinsGlu
ENST00000512702.5:c.510_518del ENSP00000422875.1:p.Asp170_Arg173delinsGlu
ENST00000513811.5:n.690_698del
ENST00000514450.2:n.665_673del
ENST00000634028.1:c.493_501del ENSP00000488669.1:n.493_501del
NM_001080522.2:c.510_518del , LRG_697t1:c.510_518del NP_001073991.2:p.Asp170_Arg173delinsGlu
XM_005248177.1:c.510_518del XP_005248234.1:p.Asp170_Arg173delinsGlu
XM_011513869.1:c.510_518del XP_011512171.1:p.Asp170_Arg173delinsGlu
XM_011513870.1:c.510_518del XP_011512172.1:p.Asp170_Arg173delinsGlu
XM_011513871.1:c.363_371del XP_011512173.1:p.Asp121_Arg124delinsGlu
XM_011513872.1:c.510_518del XP_011512174.1:p.Asp170_Arg173delinsGlu
XM_011513873.1:c.510_518del XP_011512175.1:p.Asp170_Arg173delinsGlu
XM_011513872.3:c.510_518del XP_011512174.1:p.Asp170_Arg173delinsGlu
XM_017008482.1:c.363_371del XP_016863971.1:p.Asp121_Arg124delinsGlu
XR_001741296.1:n.710_718del
NM_001378615.1:c.510_518del MANE Select NP_001365544.1:p.Asp170_Arg173delinsGlu
NM_001378617.1:c.363_371del NP_001365546.1:p.Asp121_Arg124delinsGlu