Canonical Allele Identifier: CA356431492

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15597736C>G (hg19) ; chr4:g.15596113C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596113C>G , CM000666.2:g.15596113C>G	GRCh38
NC_000004.11:g.15597736C>G , CM000666.1:g.15597736C>G	GRCh37
NC_000004.10:g.15206834C>G	NCBI36
NG_013035.1:g.131248C>G , LRG_697:g.131248C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4379C>G	ENSP00000374303.8:p.Ser1460Cys
ENST00000424120.6:c.4343C>G MANE Select	ENSP00000403465.1:p.Ser1448Cys
ENST00000503292.6:c.4343C>G	ENSP00000421809.1:p.Ser1448Cys
ENST00000506643.5:c.4196C>G	ENSP00000422931.2:p.Ser1399Cys
ENST00000513035.2:n.242C>G
ENST00000514039.6:c.544-1294C>G	ENSP00000488534.2:n.544-1294C>G
ENST00000634028.2:c.4168-31C>G	ENSP00000488669.2:n.4168-31C>G
ENST00000650860.2:c.*1840C>G	ENSP00000498775.1:n.*1840C>G
ENST00000674945.1:c.4019C>G	ENSP00000502333.1:p.Ser1340Cys
ENST00000680586.1:n.5002C>G
ENST00000389652.9:c.3841C>G
ENST00000424120.5:c.4343C>G	ENSP00000403465.1:p.Ser1448Cys
ENST00000503292.5:c.4343C>G	ENSP00000421809.1:p.Ser1448Cys
ENST00000506643.4:c.2643-31C>G
ENST00000513035.1:n.242C>G
ENST00000514039.5:c.54-1294C>G
ENST00000634028.1:c.4149C>G	ENSP00000488669.1:n.4149C>G
NM_001080522.2:c.4343C>G , LRG_697t1:c.4343C>G	NP_001073991.2:p.Ser1448Cys
XM_005248177.1:c.4343C>G	XP_005248234.1:p.Ser1448Cys
XM_011513869.1:c.4361C>G	XP_011512171.1:p.Ser1454Cys
XM_011513870.1:c.4361C>G	XP_011512172.1:p.Ser1454Cys
XM_011513871.1:c.4214C>G	XP_011512173.1:p.Ser1405Cys
XM_017008482.1:c.4196C>G	XP_016863971.1:p.Ser1399Cys
NM_001378615.1:c.4343C>G MANE Select	NP_001365544.1:p.Ser1448Cys
NM_001378617.1:c.4196C>G	NP_001365546.1:p.Ser1399Cys