Canonical Allele Identifier: CA438391034

Gene: CC2D2A

Linked Data

• dbSNP Id: rs1721308445
• MyVariant Identifiers: chr4:g.15597734A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15596111A>G , CM000666.2:g.15596111A>G	GRCh38
NC_000004.11:g.15597734A>G , CM000666.1:g.15597734A>G	GRCh37
NC_000004.10:g.15206832A>G	NCBI36
NG_013035.1:g.131246A>G , LRG_697:g.131246A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389652.11:c.4377A>G	ENSP00000374303.8:p.Glu1459=
ENST00000424120.6:c.4341A>G MANE Select	ENSP00000403465.1:p.Glu1447=
ENST00000503292.6:c.4341A>G	ENSP00000421809.1:p.Glu1447=
ENST00000506643.5:c.4194A>G	ENSP00000422931.2:p.Glu1398=
ENST00000513035.2:n.240A>G
ENST00000514039.6:c.544-1296A>G	ENSP00000488534.2:n.544-1296A>G
ENST00000634028.2:c.4168-33A>G	ENSP00000488669.2:n.4168-33A>G
ENST00000650860.2:c.*1838A>G	ENSP00000498775.1:n.*1838A>G
ENST00000674945.1:c.4017A>G	ENSP00000502333.1:p.Glu1339=
ENST00000680586.1:n.5000A>G
ENST00000389652.9:c.3839A>G
ENST00000424120.5:c.4341A>G	ENSP00000403465.1:p.Glu1447=
ENST00000503292.5:c.4341A>G	ENSP00000421809.1:p.Glu1447=
ENST00000506643.4:c.2643-33A>G
ENST00000513035.1:n.240A>G
ENST00000514039.5:c.54-1296A>G
ENST00000634028.1:c.4147A>G	ENSP00000488669.1:n.4147A>G
NM_001080522.2:c.4341A>G , LRG_697t1:c.4341A>G	NP_001073991.2:p.Glu1447=
XM_005248177.1:c.4341A>G	XP_005248234.1:p.Glu1447=
XM_011513869.1:c.4359A>G	XP_011512171.1:p.Glu1453=
XM_011513870.1:c.4359A>G	XP_011512172.1:p.Glu1453=
XM_011513871.1:c.4212A>G	XP_011512173.1:p.Glu1404=
XM_017008482.1:c.4194A>G	XP_016863971.1:p.Glu1398=
NM_001378615.1:c.4341A>G MANE Select	NP_001365544.1:p.Glu1447=
NM_001378617.1:c.4194A>G	NP_001365546.1:p.Glu1398=