Canonical Allele Identifier: CA16618033
Gene: CC2D2A HGNC NCBI

Linked Data

ClinVar Variation Id: 419063
ClinVar RCV Id: RCV000485652
dbSNP Id: rs1064793618

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15480756del , CM000666.2:g.15480756del GRCh38
NC_000004.11:g.15482380del , CM000666.1:g.15482380del GRCh37
NC_000004.10:g.15091478del NCBI36
NG_013035.1:g.15892del , LRG_697:g.15892del

Transcript Alleles

HGVS Amino-acid change
ENST00000389652.11:c.176del ENSP00000374303.8:p.Asn59ThrfsTer15
ENST00000424120.6:c.176del MANE Select ENSP00000403465.1:p.Asn59ThrfsTer15
ENST00000503292.6:c.176del ENSP00000421809.1:p.Asn59ThrfsTer15
ENST00000506643.5:c.29del ENSP00000422931.2:p.Asn10ThrfsTer15
ENST00000511544.6:c.*64del ENSP00000426109.2:n.*64del
ENST00000512702.6:c.176del ENSP00000422875.2:p.Asn59ThrfsTer15
ENST00000514450.3:c.176del ENSP00000502062.1:p.Asn59ThrfsTer15
ENST00000515124.6:c.176del ENSP00000424368.1:p.Asn59ThrfsTer15
ENST00000634028.2:c.29del ENSP00000488669.2:p.Asn10ThrfsTer15
ENST00000650860.2:c.29del ENSP00000498775.1:p.Asn10ThrfsTer15
ENST00000651385.1:c.29del ENSP00000499005.1:p.Asn10ThrfsTer15
ENST00000652443.1:c.29del ENSP00000502719.1:p.Asn10ThrfsTer15
ENST00000674945.1:c.29del ENSP00000502333.1:p.Asn10ThrfsTer15
ENST00000676337.1:c.29del ENSP00000501728.1:p.Asn10ThrfsTer15
ENST00000424120.5:c.176del ENSP00000403465.1:p.Asn59ThrfsTer15
ENST00000438599.6:c.282del ENSP00000401154.2:p.Gln94HisfsTer?
ENST00000503292.5:c.176del ENSP00000421809.1:p.Asn59ThrfsTer15
ENST00000503658.2:c.282del ENSP00000426846.1:p.Gln94HisfsTer?
ENST00000507954.5:c.176del ENSP00000427221.1:p.Asn59ThrfsTer15
ENST00000511544.5:c.*64del ENSP00000426109.2:n.*64del
ENST00000512702.5:c.176del ENSP00000422875.1:p.Asn59ThrfsTer15
ENST00000513811.5:n.356del
ENST00000514450.2:n.331del
ENST00000515124.5:c.176del ENSP00000424368.1:p.Asn59ThrfsTer15
ENST00000634028.1:c.159del ENSP00000488669.1:p.Gln53HisfsTer?
NM_001080522.2:c.176del , LRG_697t1:c.176del NP_001073991.2:p.Asn59ThrfsTer15
NM_001164720.1:c.176del NP_001158192.1:p.Asn59ThrfsTer15
NM_020785.2:c.282del , LRG_697t2:c.282del NP_065836.2:p.Gln94HisfsTer?
XM_005248177.1:c.176del XP_005248234.1:p.Asn59ThrfsTer15
XM_011513869.1:c.176del XP_011512171.1:p.Asn59ThrfsTer15
XM_011513870.1:c.176del XP_011512172.1:p.Asn59ThrfsTer15
XM_011513871.1:c.29del XP_011512173.1:p.Asn10ThrfsTer15
XM_011513872.1:c.176del XP_011512174.1:p.Asn59ThrfsTer15
XM_011513873.1:c.176del XP_011512175.1:p.Asn59ThrfsTer15
XM_011513874.1:c.176del XP_011512176.1:p.Asn59ThrfsTer15
XM_011513872.3:c.176del XP_011512174.1:p.Asn59ThrfsTer15
XM_011513874.2:c.176del XP_011512176.1:p.Asn59ThrfsTer15
XM_017008482.1:c.29del XP_016863971.1:p.Asn10ThrfsTer15
XR_001741296.1:n.376del
NM_001164720.2:c.176del NP_001158192.1:p.Asn59ThrfsTer15
NM_001164720.3:c.176del NP_001158192.1:p.Asn59ThrfsTer15
NM_001378615.1:c.176del MANE Select NP_001365544.1:p.Asn59ThrfsTer15
NM_001378617.1:c.29del NP_001365546.1:p.Asn10ThrfsTer15