Canonical Allele Identifier: CA438391043

Gene: CC2D2A

Linked Data

• MyVariant Identifiers: chr4:g.15597743A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596120A>G , CM000666.2:g.15596120A>G	GRCh38
NC_000004.11:g.15597743A>G , CM000666.1:g.15597743A>G	GRCh37
NC_000004.10:g.15206841A>G	NCBI36
NG_013035.1:g.131255A>G , LRG_697:g.131255A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4386A>G	ENSP00000374303.8:p.Leu1462=
ENST00000424120.6:c.4350A>G MANE Select	ENSP00000403465.1:p.Leu1450=
ENST00000503292.6:c.4350A>G	ENSP00000421809.1:p.Leu1450=
ENST00000506643.5:c.4203A>G	ENSP00000422931.2:p.Leu1401=
ENST00000513035.2:n.249A>G
ENST00000514039.6:c.544-1287A>G	ENSP00000488534.2:n.544-1287A>G
ENST00000634028.2:c.4168-24A>G	ENSP00000488669.2:n.4168-24A>G
ENST00000650860.2:c.*1847A>G	ENSP00000498775.1:n.*1847A>G
ENST00000674945.1:c.4026A>G	ENSP00000502333.1:p.Leu1342=
ENST00000680586.1:n.5009A>G
ENST00000389652.9:c.3848A>G
ENST00000424120.5:c.4350A>G	ENSP00000403465.1:p.Leu1450=
ENST00000503292.5:c.4350A>G	ENSP00000421809.1:p.Leu1450=
ENST00000506643.4:c.2643-24A>G
ENST00000513035.1:n.249A>G
ENST00000514039.5:c.54-1287A>G
ENST00000634028.1:c.4156A>G	ENSP00000488669.1:n.4156A>G
NM_001080522.2:c.4350A>G , LRG_697t1:c.4350A>G	NP_001073991.2:p.Leu1450=
XM_005248177.1:c.4350A>G	XP_005248234.1:p.Leu1450=
XM_011513869.1:c.4368A>G	XP_011512171.1:p.Leu1456=
XM_011513870.1:c.4368A>G	XP_011512172.1:p.Leu1456=
XM_011513871.1:c.4221A>G	XP_011512173.1:p.Leu1407=
XM_017008482.1:c.4203A>G	XP_016863971.1:p.Leu1401=
NM_001378615.1:c.4350A>G MANE Select	NP_001365544.1:p.Leu1450=
NM_001378617.1:c.4203A>G	NP_001365546.1:p.Leu1401=