Canonical Allele Identifier: CA2580070854
Gene: CC2D2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2028727
ClinVar RCV Id: RCV002876281

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15510134_15510192dup , CM000666.2:g.15510134_15510192dup GRCh38
NC_000004.11:g.15511757_15511815dup , CM000666.1:g.15511757_15511815dup GRCh37
NC_000004.10:g.15120855_15120913dup NCBI36
NG_013035.1:g.45269_45327dup , LRG_697:g.45269_45327dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389652.11:c.439-5_492dup
ENST00000424120.6:c.439-5_492dup
ENST00000503292.6:c.439-5_492dup
ENST00000506643.5:c.292-5_345dup
ENST00000512702.6:c.439-5_492dup
ENST00000514450.3:c.439-5_492dup
ENST00000634028.2:c.292-5_345dup
ENST00000650860.2:c.292-5_345dup
ENST00000651385.1:c.292-5_345dup
ENST00000674945.1:c.292-5_345dup
ENST00000676337.1:c.292-5_345dup
ENST00000424120.5:c.439-5_492dup
ENST00000503292.5:c.439-5_492dup
ENST00000512702.5:c.439-5_492dup
ENST00000513811.5:n.619-5_672dup
ENST00000514450.2:n.594-5_647dup
ENST00000634028.1:c.422-5_475dup
NM_001080522.2:c.439-5_492dup , LRG_697t1:c.439-5_492dup
XM_005248177.1:c.439-5_492dup
XM_011513869.1:c.439-5_492dup
XM_011513870.1:c.439-5_492dup
XM_011513871.1:c.292-5_345dup
XM_011513872.1:c.439-5_492dup
XM_011513873.1:c.439-5_492dup
XM_011513872.3:c.439-5_492dup
XM_017008482.1:c.292-5_345dup
XR_001741296.1:n.639-5_692dup
NM_001378615.1:c.439-5_492dup
NM_001378617.1:c.292-5_345dup