Canonical Allele Identifier: CA144224
Gene: CC2D2A HGNC NCBI
ClinVar RCV:
RCV000049715
RCV000201550
RCV000727050
RCV000817119
RCV002227058
RCV002266895
RCV002513687
RCV004528259
ClinVar Variation:
56303
dbSNP:
386833751
gnomAD v2:
4:15569298 AG / A
gnomAD v3:
4:15567675 AG / A
gnomAD v4:
chr4-15567675-AG-A
Joint Max Group AF 0.00030398 (NFE)
Genomes Max Group AF 0.00029241 (NFE)
Exomes Max Group AF 0.00029829 (NFE)
MyVariant.info:
GRCh38 chr4:g.15567677del
GRCh38 chr4:g.15567676del
GRCh37 chr4:g.15569300del
GRCh37 chr4:g.15569299del
JSON-LD

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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