Canonical Allele Identifier: CA2864351

Gene: CC2D2A

Linked Data

• ClinVar Variation Id: 347903
• ClinVar RCV Id: RCV000310019 ; RCV000364646 ; RCV001252766 ; RCV004530405 ; RCV000864851
• dbSNP Id: rs143947747
• ExAC: 4:15591190 C / G
• gnomAD v2: 4-15591190-C-G
• gnomAD v3: 4-15589567-C-G
• gnomAD v4: 4-15589567-C-G
• COSMIC: COSM4002975 ; COSM4002976
• MyVariant Identifiers: chr4:g.15591190C>G (hg19) ; chr4:g.15589567C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15589567C>G , CM000666.2:g.15589567C>G	GRCh38
NC_000004.11:g.15591190C>G , CM000666.1:g.15591190C>G	GRCh37
NC_000004.10:g.15200288C>G	NCBI36
NG_013035.1:g.124702C>G , LRG_697:g.124702C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4238C>G	ENSP00000374303.8:p.Thr1413Ser
ENST00000424120.6:c.4202C>G MANE Select	ENSP00000403465.1:p.Thr1401Ser
ENST00000503292.6:c.4202C>G	ENSP00000421809.1:p.Thr1401Ser
ENST00000506643.5:c.4055C>G	ENSP00000422931.2:p.Thr1352Ser
ENST00000514039.6:c.431C>G	ENSP00000488534.2:p.Thr144Ser
ENST00000634028.2:c.4055C>G	ENSP00000488669.2:p.Thr1352Ser
ENST00000650860.2:c.*1699C>G	ENSP00000498775.1:n.*1699C>G
ENST00000674945.1:c.3878C>G	ENSP00000502333.1:p.Thr1293Ser
ENST00000675768.1:n.1422C>G
ENST00000680586.1:n.4861C>G
ENST00000389652.9:c.3700C>G
ENST00000424120.5:c.4202C>G	ENSP00000403465.1:p.Thr1401Ser
ENST00000503292.5:c.4202C>G	ENSP00000421809.1:p.Thr1401Ser
ENST00000506643.4:c.2530C>G
ENST00000634028.1:c.4008C>G	ENSP00000488669.1:n.4008C>G
NM_001080522.2:c.4202C>G , LRG_697t1:c.4202C>G	NP_001073991.2:p.Thr1401Ser
XM_005248177.1:c.4202C>G	XP_005248234.1:p.Thr1401Ser
XM_011513869.1:c.4220C>G	XP_011512171.1:p.Thr1407Ser
XM_011513870.1:c.4220C>G	XP_011512172.1:p.Thr1407Ser
XM_011513871.1:c.4073C>G	XP_011512173.1:p.Thr1358Ser
XM_017008482.1:c.4055C>G	XP_016863971.1:p.Thr1352Ser
NM_001378615.1:c.4202C>G MANE Select	NP_001365544.1:p.Thr1401Ser
NM_001378617.1:c.4055C>G	NP_001365546.1:p.Thr1352Ser