Canonical Allele Identifier: CA356431485

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15597733A>T (hg19) ; chr4:g.15596110A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596110A>T , CM000666.2:g.15596110A>T	GRCh38
NC_000004.11:g.15597733A>T , CM000666.1:g.15597733A>T	GRCh37
NC_000004.10:g.15206831A>T	NCBI36
NG_013035.1:g.131245A>T , LRG_697:g.131245A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389652.11:c.4376A>T	ENSP00000374303.8:p.Glu1459Val
ENST00000424120.6:c.4340A>T MANE Select	ENSP00000403465.1:p.Glu1447Val
ENST00000503292.6:c.4340A>T	ENSP00000421809.1:p.Glu1447Val
ENST00000506643.5:c.4193A>T	ENSP00000422931.2:p.Glu1398Val
ENST00000513035.2:n.239A>T
ENST00000514039.6:c.544-1297A>T	ENSP00000488534.2:n.544-1297A>T
ENST00000634028.2:c.4168-34A>T	ENSP00000488669.2:n.4168-34A>T
ENST00000650860.2:c.*1837A>T	ENSP00000498775.1:n.*1837A>T
ENST00000674945.1:c.4016A>T	ENSP00000502333.1:p.Glu1339Val
ENST00000680586.1:n.4999A>T
ENST00000389652.9:c.3838A>T
ENST00000424120.5:c.4340A>T	ENSP00000403465.1:p.Glu1447Val
ENST00000503292.5:c.4340A>T	ENSP00000421809.1:p.Glu1447Val
ENST00000506643.4:c.2643-34A>T
ENST00000513035.1:n.239A>T
ENST00000514039.5:c.54-1297A>T
ENST00000634028.1:c.4146A>T	ENSP00000488669.1:n.4146A>T
NM_001080522.2:c.4340A>T , LRG_697t1:c.4340A>T	NP_001073991.2:p.Glu1447Val
XM_005248177.1:c.4340A>T	XP_005248234.1:p.Glu1447Val
XM_011513869.1:c.4358A>T	XP_011512171.1:p.Glu1453Val
XM_011513870.1:c.4358A>T	XP_011512172.1:p.Glu1453Val
XM_011513871.1:c.4211A>T	XP_011512173.1:p.Glu1404Val
XM_017008482.1:c.4193A>T	XP_016863971.1:p.Glu1398Val
NM_001378615.1:c.4340A>T MANE Select	NP_001365544.1:p.Glu1447Val
NM_001378617.1:c.4193A>T	NP_001365546.1:p.Glu1398Val