Canonical Allele Identifier: CA210298

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 217619
• ClinVar RCV Id: RCV000201676 ; RCV002519579
• dbSNP Id: rs576298659
• ExAC: 4:15587777 C / A
• gnomAD v2: 4-15587777-C-A
• gnomAD v3: 4-15586154-C-A
• gnomAD v4: 4-15586154-C-A
• MyVariant Identifiers: chr4:g.15587777C>A (hg19) ; chr4:g.15586154C>A (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15586154C>A , CM000666.2:g.15586154C>A	GRCh38
NC_000004.11:g.15587777C>A , CM000666.1:g.15587777C>A	GRCh37
NC_000004.10:g.15196875C>A	NCBI36
NG_013035.1:g.121289C>A , LRG_697:g.121289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4012-3C>A	ENSP00000374303.8:n.4012-3C>A
ENST00000424120.6:c.3976-3C>A MANE Select	ENSP00000403465.1:n.3976-3C>A
ENST00000503292.6:c.3976-3C>A	ENSP00000421809.1:n.3976-3C>A
ENST00000506643.5:c.3829-3C>A	ENSP00000422931.2:n.3829-3C>A
ENST00000514039.6:c.205-3C>A	ENSP00000488534.2:n.205-3C>A
ENST00000634028.2:c.3829-3C>A	ENSP00000488669.2:n.3829-3C>A
ENST00000650860.2:c.*1473-3C>A	ENSP00000498775.1:n.*1473-3C>A
ENST00000674945.1:c.3652-3C>A	ENSP00000502333.1:n.3652-3C>A
ENST00000675768.1:n.1196-3C>A
ENST00000680586.1:n.4635-3C>A
ENST00000389652.9:c.3474-3C>A
ENST00000424120.5:c.3976-3C>A	ENSP00000403465.1:n.3976-3C>A
ENST00000503292.5:c.3976-3C>A	ENSP00000421809.1:n.3976-3C>A
ENST00000506643.4:c.2304-3C>A
ENST00000634028.1:c.3782-3C>A	ENSP00000488669.1:n.3782-3C>A
NM_001080522.2:c.3976-3C>A , LRG_697t1:c.3976-3C>A	NP_001073991.2:n.3976-3C>A
XM_005248177.1:c.3976-3C>A	XP_005248234.1:n.3976-3C>A
XM_011513869.1:c.3991C>A	XP_011512171.1:p.Gln1331Lys
XM_011513870.1:c.3991C>A	XP_011512172.1:p.Gln1331Lys
XM_011513871.1:c.3844C>A	XP_011512173.1:p.Gln1282Lys
XM_017008482.1:c.3829-3C>A	XP_016863971.1:n.3829-3C>A
NM_001378615.1:c.3976-3C>A MANE Select	NP_001365544.1:n.3976-3C>A
NM_001378617.1:c.3829-3C>A	NP_001365546.1:n.3829-3C>A