Canonical Allele Identifier: CA144224
Gene: CC2D2A HGNC NCBI

Linked Data

ClinVar Variation Id: 56303
ClinVar RCV Id: RCV000049715 RCV000201550 RCV000727050 RCV000817119
dbSNP Id: rs386833751
ExAC: 4:15569298 AG / A
gnomAD v2: 4-15569298-AG-A
gnomAD v3: 4-15567675-AG-A
gnomAD v4: 4-15567675-AG-A
MyVariant Identifiers: chr4:g.15569300del (hg19) chr4:g.15569299del (hg19) chr4:g.15567677del (hg38) chr4:g.15567676del (hg38)
PubMed: PMID:19466712 PMID:26092869
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.15567677del , CM000666.2:g.15567677del GRCh38
NC_000004.11:g.15569300del , CM000666.1:g.15569300del GRCh37
NC_000004.10:g.15178398del NCBI36
NG_013035.1:g.102812del , LRG_697:g.102812del

Transcript Alleles

HGVS Amino-acid change
ENST00000389652.11:c.3304del
ENST00000424120.6:c.3289del
ENST00000503292.6:c.3289del
ENST00000506643.5:c.3142del
ENST00000634028.2:c.3142del
ENST00000650860.2:c.*295del
ENST00000674945.1:c.3142del
ENST00000675619.1:n.4100del
ENST00000675768.1:n.509del
ENST00000676337.1:c.*295del
ENST00000680586.1:n.3948del
ENST00000389652.9:c.2766del
ENST00000424120.5:c.3289del
ENST00000503292.5:c.3289del
ENST00000506643.4:c.1617del
ENST00000634028.1:c.3272del
NM_001080522.2:c.3289del , LRG_697t1:c.3289del
XM_005248177.1:c.3289del
XM_011513869.1:c.3289del
XM_011513870.1:c.3289del
XM_011513871.1:c.3142del
XM_017008482.1:c.3142del
XR_001741296.1:n.3534del
NM_001378615.1:c.3289del
NM_001378617.1:c.3142del
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