Canonical Allele Identifier: CA2864387

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 238279
• ClinVar RCV Id: RCV000233027 ; RCV000363082 ; RCV000267027 ; RCV000317484 ; RCV001576959 ; RCV004532860
• dbSNP Id: rs117667651
• ExAC: 4:15599021 C / A
• gnomAD v2: 4-15599021-C-A
• gnomAD v3: 4-15597398-C-A
• gnomAD v4: 4-15597398-C-A
• MyVariant Identifiers: chr4:g.15599021C>A (hg19) ; chr4:g.15597398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15597398C>A , CM000666.2:g.15597398C>A	GRCh38
NC_000004.11:g.15599021C>A , CM000666.1:g.15599021C>A	GRCh37
NC_000004.10:g.15208119C>A	NCBI36
NG_013035.1:g.132533C>A , LRG_697:g.132533C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4474-9C>A	ENSP00000374303.8:n.4474-9C>A
ENST00000424120.6:c.4438-9C>A MANE Select	ENSP00000403465.1:n.4438-9C>A
ENST00000503292.6:c.4438-9C>A	ENSP00000421809.1:n.4438-9C>A
ENST00000506643.5:c.4291-9C>A	ENSP00000422931.2:n.4291-9C>A
ENST00000513035.2:n.337-9C>A
ENST00000514039.6:c.544-9C>A	ENSP00000488534.2:n.544-9C>A
ENST00000634028.2:c.4232-9C>A	ENSP00000488669.2:n.4232-9C>A
ENST00000650860.2:c.*1935-9C>A	ENSP00000498775.1:n.*1935-9C>A
ENST00000674945.1:c.4114-9C>A	ENSP00000502333.1:n.4114-9C>A
ENST00000680586.1:n.5097-9C>A
ENST00000389652.9:c.3936-9C>A
ENST00000424120.5:c.4438-9C>A	ENSP00000403465.1:n.4438-9C>A
ENST00000503292.5:c.4438-9C>A	ENSP00000421809.1:n.4438-9C>A
ENST00000506643.4:c.2707-9C>A
ENST00000513035.1:n.337-9C>A
ENST00000514039.5:c.54-9C>A
ENST00000634028.1:c.4244-9C>A	ENSP00000488669.1:n.4244-9C>A
NM_001080522.2:c.4438-9C>A , LRG_697t1:c.4438-9C>A	NP_001073991.2:n.4438-9C>A
XM_005248177.1:c.4438-9C>A	XP_005248234.1:n.4438-9C>A
XM_011513869.1:c.4456-9C>A	XP_011512171.1:n.4456-9C>A
XM_011513870.1:c.4456-9C>A	XP_011512172.1:n.4456-9C>A
XM_011513871.1:c.4309-9C>A	XP_011512173.1:n.4309-9C>A
XM_017008482.1:c.4291-9C>A	XP_016863971.1:n.4291-9C>A
NM_001378615.1:c.4438-9C>A MANE Select	NP_001365544.1:n.4438-9C>A
NM_001378617.1:c.4291-9C>A	NP_001365546.1:n.4291-9C>A