Canonical Allele Identifier: CA2864414

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599584C>T , CM000666.2:g.15599584C>T	GRCh38
NC_000004.11:g.15601207C>T , CM000666.1:g.15601207C>T	GRCh37
NC_000004.10:g.15210305C>T	NCBI36
NG_013035.1:g.134719C>T , LRG_697:g.134719C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4552C>T MANE Select	NP_001365544.1:p.Arg1518Trp
ENST00000424120.6:c.4552C>T MANE Select	ENSP00000403465.1:p.Arg1518Trp
NM_001080522.2:c.4552C>T , LRG_697t1:c.4552C>T	NP_001073991.2:p.Arg1518Trp
NM_001378617.1:c.4405C>T	NP_001365546.1:p.Arg1469Trp
ENST00000389652.11:c.4588C>T	ENSP00000374303.8:p.Arg1530Trp
ENST00000389652.9:c.4050C>T
ENST00000424120.5:c.4552C>T	ENSP00000403465.1:p.Arg1518Trp
ENST00000503292.5:c.4552C>T	ENSP00000421809.1:p.Arg1518Trp
ENST00000503292.6:c.4552C>T	ENSP00000421809.1:p.Arg1518Trp
ENST00000506643.4:c.2821C>T
ENST00000506643.5:c.4405C>T	ENSP00000422931.2:p.Arg1469Trp
ENST00000514039.5:c.168C>T
ENST00000514039.6:c.658C>T	ENSP00000488534.2:p.Arg220Trp
ENST00000634028.1:c.4358C>T	ENSP00000488669.1:n.4358C>T
ENST00000634028.2:c.4346C>T	ENSP00000488669.2:n.4346C>T
ENST00000650860.2:c.*2049C>T	ENSP00000498775.1:n.*2049C>T
ENST00000674945.1:c.4228C>T	ENSP00000502333.1:p.Arg1410Trp
ENST00000680586.1:n.5211C>T
XM_005248177.1:c.4552C>T	XP_005248234.1:p.Arg1518Trp
XM_011513869.1:c.4570C>T	XP_011512171.1:p.Arg1524Trp
XM_011513870.1:c.4570C>T	XP_011512172.1:p.Arg1524Trp
XM_011513871.1:c.4423C>T	XP_011512173.1:p.Arg1475Trp
XM_017008482.1:c.4405C>T	XP_016863971.1:p.Arg1469Trp