Canonical Allele Identifier: CA2864455

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15601236G>C , CM000666.2:g.15601236G>C	GRCh38
NC_000004.11:g.15602859G>C , CM000666.1:g.15602859G>C	GRCh37
NC_000004.10:g.15211957G>C	NCBI36
NG_013035.1:g.136371G>C , LRG_697:g.136371G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4675-1G>C MANE Select	NP_001365544.1:n.4675-1G>C
ENST00000424120.6:c.4675-1G>C MANE Select	ENSP00000403465.1:n.4675-1G>C
NM_001080522.2:c.4675-1G>C , LRG_697t1:c.4675-1G>C	NP_001073991.2:n.4675-1G>C
NM_001378617.1:c.4528-1G>C	NP_001365546.1:n.4528-1G>C
ENST00000389652.11:c.4711-1G>C	ENSP00000374303.8:n.4711-1G>C
ENST00000389652.9:c.4173-1G>C
ENST00000424120.5:c.4675-1G>C	ENSP00000403465.1:n.4675-1G>C
ENST00000503292.5:c.4675-1G>C	ENSP00000421809.1:n.4675-1G>C
ENST00000503292.6:c.4675-1G>C	ENSP00000421809.1:n.4675-1G>C
ENST00000506643.4:c.2944-1G>C
ENST00000506643.5:c.4528-1G>C	ENSP00000422931.2:n.4528-1G>C
ENST00000514039.5:c.291-1G>C
ENST00000514039.6:c.781-1G>C	ENSP00000488534.2:n.781-1G>C
ENST00000634028.1:c.4481-1G>C	ENSP00000488669.1:n.4481-1G>C
ENST00000634028.2:c.4469-1G>C	ENSP00000488669.2:n.4469-1G>C
ENST00000650860.2:c.*2172-1G>C	ENSP00000498775.1:n.*2172-1G>C
ENST00000674945.1:c.4351-1G>C	ENSP00000502333.1:n.4351-1G>C
XM_005248177.1:c.4675-1G>C	XP_005248234.1:n.4675-1G>C
XM_011513869.1:c.4693-1G>C	XP_011512171.1:n.4693-1G>C
XM_011513870.1:c.4693-1G>C	XP_011512172.1:n.4693-1G>C
XM_011513871.1:c.4546-1G>C	XP_011512173.1:n.4546-1G>C
XM_017008482.1:c.4528-1G>C	XP_016863971.1:n.4528-1G>C