Canonical Allele Identifier: CA356433780

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15599563T>C , CM000666.2:g.15599563T>C	GRCh38
NC_000004.11:g.15601186T>C , CM000666.1:g.15601186T>C	GRCh37
NC_000004.10:g.15210284T>C	NCBI36
NG_013035.1:g.134698T>C , LRG_697:g.134698T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4531T>C MANE Select	NP_001365544.1:p.Trp1511Arg
ENST00000424120.6:c.4531T>C MANE Select	ENSP00000403465.1:p.Trp1511Arg
NM_001080522.2:c.4531T>C , LRG_697t1:c.4531T>C	NP_001073991.2:p.Trp1511Arg
NM_001378617.1:c.4384T>C	NP_001365546.1:p.Trp1462Arg
ENST00000389652.11:c.4567T>C	ENSP00000374303.8:p.Trp1523Arg
ENST00000389652.9:c.4029T>C
ENST00000424120.5:c.4531T>C	ENSP00000403465.1:p.Trp1511Arg
ENST00000503292.5:c.4531T>C	ENSP00000421809.1:p.Trp1511Arg
ENST00000503292.6:c.4531T>C	ENSP00000421809.1:p.Trp1511Arg
ENST00000506643.4:c.2800T>C
ENST00000506643.5:c.4384T>C	ENSP00000422931.2:p.Trp1462Arg
ENST00000514039.5:c.147T>C
ENST00000514039.6:c.637T>C	ENSP00000488534.2:p.Trp213Arg
ENST00000634028.1:c.4337T>C	ENSP00000488669.1:n.4337T>C
ENST00000634028.2:c.4325T>C	ENSP00000488669.2:n.4325T>C
ENST00000650860.2:c.*2028T>C	ENSP00000498775.1:n.*2028T>C
ENST00000674945.1:c.4207T>C	ENSP00000502333.1:p.Trp1403Arg
ENST00000680586.1:n.5190T>C
XM_005248177.1:c.4531T>C	XP_005248234.1:p.Trp1511Arg
XM_011513869.1:c.4549T>C	XP_011512171.1:p.Trp1517Arg
XM_011513870.1:c.4549T>C	XP_011512172.1:p.Trp1517Arg
XM_011513871.1:c.4402T>C	XP_011512173.1:p.Trp1468Arg
XM_017008482.1:c.4384T>C	XP_016863971.1:p.Trp1462Arg