Canonical Allele Identifier: CA356436102

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15601270G>T , CM000666.2:g.15601270G>T	GRCh38
NC_000004.11:g.15602893G>T , CM000666.1:g.15602893G>T	GRCh37
NC_000004.10:g.15211991G>T	NCBI36
NG_013035.1:g.136405G>T , LRG_697:g.136405G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4708G>T MANE Select	NP_001365544.1:p.Glu1570Ter
ENST00000424120.6:c.4708G>T MANE Select	ENSP00000403465.1:p.Glu1570Ter
NM_001080522.2:c.4708G>T , LRG_697t1:c.4708G>T	NP_001073991.2:p.Glu1570Ter
NM_001378617.1:c.4561G>T	NP_001365546.1:p.Glu1521Ter
ENST00000389652.11:c.4744G>T	ENSP00000374303.8:p.Glu1582Ter
ENST00000389652.9:c.4206G>T
ENST00000424120.5:c.4708G>T	ENSP00000403465.1:p.Glu1570Ter
ENST00000503292.5:c.4708G>T	ENSP00000421809.1:p.Glu1570Ter
ENST00000503292.6:c.4708G>T	ENSP00000421809.1:p.Glu1570Ter
ENST00000506643.4:c.2977G>T
ENST00000506643.5:c.4561G>T	ENSP00000422931.2:p.Glu1521Ter
ENST00000514039.5:c.324G>T
ENST00000514039.6:c.814G>T	ENSP00000488534.2:p.Glu272Ter
ENST00000634028.1:c.4514G>T	ENSP00000488669.1:n.4514G>T
ENST00000634028.2:c.4502G>T	ENSP00000488669.2:n.4502G>T
ENST00000650860.2:c.*2205G>T	ENSP00000498775.1:n.*2205G>T
ENST00000674945.1:c.4384G>T	ENSP00000502333.1:p.Glu1462Ter
XM_005248177.1:c.4708G>T	XP_005248234.1:p.Glu1570Ter
XM_011513869.1:c.4726G>T	XP_011512171.1:p.Glu1576Ter
XM_011513870.1:c.4726G>T	XP_011512172.1:p.Glu1576Ter
XM_011513871.1:c.4579G>T	XP_011512173.1:p.Glu1527Ter
XM_017008482.1:c.4561G>T	XP_016863971.1:p.Glu1521Ter