Canonical Allele Identifier: CA356428591

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15586248T>C , CM000666.2:g.15586248T>C	GRCh38
NC_000004.11:g.15587871T>C , CM000666.1:g.15587871T>C	GRCh37
NC_000004.10:g.15196969T>C	NCBI36
NG_013035.1:g.121383T>C , LRG_697:g.121383T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.4065+2T>C MANE Select	NP_001365544.1:n.4065+2T>C
ENST00000424120.6:c.4065+2T>C MANE Select	ENSP00000403465.1:n.4065+2T>C
NM_001080522.2:c.4065+2T>C , LRG_697t1:c.4065+2T>C	NP_001073991.2:n.4065+2T>C
NM_001378617.1:c.3918+2T>C	NP_001365546.1:n.3918+2T>C
ENST00000389652.11:c.4101+2T>C	ENSP00000374303.8:n.4101+2T>C
ENST00000389652.9:c.3563+2T>C
ENST00000424120.5:c.4065+2T>C	ENSP00000403465.1:n.4065+2T>C
ENST00000503292.5:c.4065+2T>C	ENSP00000421809.1:n.4065+2T>C
ENST00000503292.6:c.4065+2T>C	ENSP00000421809.1:n.4065+2T>C
ENST00000506643.4:c.2393+2T>C
ENST00000506643.5:c.3918+2T>C	ENSP00000422931.2:n.3918+2T>C
ENST00000514039.6:c.294+2T>C	ENSP00000488534.2:n.294+2T>C
ENST00000634028.1:c.3871+2T>C	ENSP00000488669.1:n.3871+2T>C
ENST00000634028.2:c.3918+2T>C	ENSP00000488669.2:n.3918+2T>C
ENST00000650860.2:c.*1562+2T>C	ENSP00000498775.1:n.*1562+2T>C
ENST00000674945.1:c.3741+2T>C	ENSP00000502333.1:n.3741+2T>C
ENST00000675768.1:n.1285+2T>C
ENST00000680586.1:n.4724+2T>C
XM_005248177.1:c.4065+2T>C	XP_005248234.1:n.4065+2T>C
XM_011513869.1:c.4083+2T>C	XP_011512171.1:n.4083+2T>C
XM_011513870.1:c.4083+2T>C	XP_011512172.1:n.4083+2T>C
XM_011513871.1:c.3936+2T>C	XP_011512173.1:n.3936+2T>C
XM_017008482.1:c.3918+2T>C	XP_016863971.1:n.3918+2T>C