Canonical Allele Identifier: CA356418694

Gene: CC2D2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.15567699A>G , CM000666.2:g.15567699A>G	GRCh38
NC_000004.11:g.15569322A>G , CM000666.1:g.15569322A>G	GRCh37
NC_000004.10:g.15178420A>G	NCBI36
NG_013035.1:g.102834A>G , LRG_697:g.102834A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378615.1:c.3311A>G MANE Select	NP_001365544.1:p.Glu1104Gly
ENST00000424120.6:c.3311A>G MANE Select	ENSP00000403465.1:p.Glu1104Gly
NM_001080522.2:c.3311A>G , LRG_697t1:c.3311A>G	NP_001073991.2:p.Glu1104Gly
NM_001378617.1:c.3164A>G	NP_001365546.1:p.Glu1055Gly
ENST00000389652.11:c.3326A>G	ENSP00000374303.8:p.Glu1109Gly
ENST00000389652.9:c.2788A>G
ENST00000424120.5:c.3311A>G	ENSP00000403465.1:p.Glu1104Gly
ENST00000503292.5:c.3311A>G	ENSP00000421809.1:p.Glu1104Gly
ENST00000503292.6:c.3311A>G	ENSP00000421809.1:p.Glu1104Gly
ENST00000506643.4:c.1639A>G
ENST00000506643.5:c.3164A>G	ENSP00000422931.2:p.Glu1055Gly
ENST00000634028.1:c.3294A>G	ENSP00000488669.1:n.3294A>G
ENST00000634028.2:c.3164A>G	ENSP00000488669.2:p.Glu1055Gly
ENST00000650860.2:c.*317A>G	ENSP00000498775.1:n.*317A>G
ENST00000674945.1:c.3164A>G	ENSP00000502333.1:p.Glu1055Gly
ENST00000675619.1:n.4122A>G
ENST00000675768.1:n.531A>G
ENST00000676337.1:c.*317A>G	ENSP00000501728.1:n.*317A>G
ENST00000680586.1:n.3970A>G
XM_005248177.1:c.3311A>G	XP_005248234.1:p.Glu1104Gly
XM_011513869.1:c.3311A>G	XP_011512171.1:p.Glu1104Gly
XM_011513870.1:c.3311A>G	XP_011512172.1:p.Glu1104Gly
XM_011513871.1:c.3164A>G	XP_011512173.1:p.Glu1055Gly
XM_017008482.1:c.3164A>G	XP_016863971.1:p.Glu1055Gly
XR_001741296.1:n.3556A>G