Canonical Allele Identifier: CA356426508

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15580125C>T , CM000666.2:g.15580125C>T	GRCh38
NC_000004.11:g.15581748C>T , CM000666.1:g.15581748C>T	GRCh37
NC_000004.10:g.15190846C>T	NCBI36
NG_013035.1:g.115260C>T , LRG_697:g.115260C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3929C>T MANE Select	NP_001365544.1:p.Pro1310Leu
ENST00000424120.6:c.3929C>T MANE Select	ENSP00000403465.1:p.Pro1310Leu
NM_001080522.2:c.3929C>T , LRG_697t1:c.3929C>T	NP_001073991.2:p.Pro1310Leu
NM_001378617.1:c.3782C>T	NP_001365546.1:p.Pro1261Leu
ENST00000389652.11:c.3965C>T	ENSP00000374303.8:p.Pro1322Leu
ENST00000389652.9:c.3427C>T
ENST00000424120.5:c.3929C>T	ENSP00000403465.1:p.Pro1310Leu
ENST00000503292.5:c.3929C>T	ENSP00000421809.1:p.Pro1310Leu
ENST00000503292.6:c.3929C>T	ENSP00000421809.1:p.Pro1310Leu
ENST00000506643.4:c.2257C>T
ENST00000506643.5:c.3782C>T	ENSP00000422931.2:p.Pro1261Leu
ENST00000514039.6:c.158C>T	ENSP00000488534.2:p.Pro53Leu
ENST00000634028.1:c.3735C>T	ENSP00000488669.1:n.3735C>T
ENST00000634028.2:c.3782C>T	ENSP00000488669.2:p.Pro1261Leu
ENST00000650860.2:c.*1426C>T	ENSP00000498775.1:n.*1426C>T
ENST00000674945.1:c.3605C>T	ENSP00000502333.1:p.Pro1202Leu
ENST00000675619.1:n.4761C>T
ENST00000675768.1:n.1149C>T
ENST00000676337.1:c.*935C>T	ENSP00000501728.1:n.*935C>T
ENST00000680586.1:n.4588C>T
XM_005248177.1:c.3929C>T	XP_005248234.1:p.Pro1310Leu
XM_011513869.1:c.3929C>T	XP_011512171.1:p.Pro1310Leu
XM_011513870.1:c.3929C>T	XP_011512172.1:p.Pro1310Leu
XM_011513871.1:c.3782C>T	XP_011512173.1:p.Pro1261Leu
XM_017008482.1:c.3782C>T	XP_016863971.1:p.Pro1261Leu
XR_001741296.1:n.4174C>T