Canonical Allele Identifier: CA356431507

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1721308995
• MyVariant Identifiers: chr4:g.15597745G>A (hg19) ; chr4:g.15596122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596122G>A , CM000666.2:g.15596122G>A	GRCh38
NC_000004.11:g.15597745G>A , CM000666.1:g.15597745G>A	GRCh37
NC_000004.10:g.15206843G>A	NCBI36
NG_013035.1:g.131257G>A , LRG_697:g.131257G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4388G>A	ENSP00000374303.8:p.Arg1463Lys
ENST00000424120.6:c.4352G>A MANE Select	ENSP00000403465.1:p.Arg1451Lys
ENST00000503292.6:c.4352G>A	ENSP00000421809.1:p.Arg1451Lys
ENST00000506643.5:c.4205G>A	ENSP00000422931.2:p.Arg1402Lys
ENST00000513035.2:n.251G>A
ENST00000514039.6:c.544-1285G>A	ENSP00000488534.2:n.544-1285G>A
ENST00000634028.2:c.4168-22G>A	ENSP00000488669.2:n.4168-22G>A
ENST00000650860.2:c.*1849G>A	ENSP00000498775.1:n.*1849G>A
ENST00000674945.1:c.4028G>A	ENSP00000502333.1:p.Arg1343Lys
ENST00000680586.1:n.5011G>A
ENST00000389652.9:c.3850G>A
ENST00000424120.5:c.4352G>A	ENSP00000403465.1:p.Arg1451Lys
ENST00000503292.5:c.4352G>A	ENSP00000421809.1:p.Arg1451Lys
ENST00000506643.4:c.2643-22G>A
ENST00000513035.1:n.251G>A
ENST00000514039.5:c.54-1285G>A
ENST00000634028.1:c.4158G>A	ENSP00000488669.1:n.4158G>A
NM_001080522.2:c.4352G>A , LRG_697t1:c.4352G>A	NP_001073991.2:p.Arg1451Lys
XM_005248177.1:c.4352G>A	XP_005248234.1:p.Arg1451Lys
XM_011513869.1:c.4370G>A	XP_011512171.1:p.Arg1457Lys
XM_011513870.1:c.4370G>A	XP_011512172.1:p.Arg1457Lys
XM_011513871.1:c.4223G>A	XP_011512173.1:p.Arg1408Lys
XM_017008482.1:c.4205G>A	XP_016863971.1:p.Arg1402Lys
NM_001378615.1:c.4352G>A MANE Select	NP_001365544.1:p.Arg1451Lys
NM_001378617.1:c.4205G>A	NP_001365546.1:p.Arg1402Lys