Canonical Allele Identifier: CA4247317

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45076063A>G , CM000669.2:g.45076063A>G	GRCh38
NC_000007.13:g.45115662A>G , CM000669.1:g.45115662A>G	GRCh37
NC_000007.12:g.45082187A>G	NCBI36
NG_016295.1:g.80876A>G , LRG_664:g.80876A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.*6A>G MANE Select	NP_113631.1:n.*6A>G
ENST00000258781.11:c.*6A>G MANE Select	ENSP00000258781.7:n.*6A>G
NM_001029835.2:c.*6A>G , LRG_664t1:c.*6A>G	NP_001025006.1:n.*6A>G
NM_001167934.1:c.*6A>G	NP_001161406.1:n.*6A>G
NM_001167934.2:c.*6A>G	NP_001161406.1:n.*6A>G
NM_001167935.1:c.*6A>G	NP_001161407.1:n.*6A>G
NM_001167935.2:c.*6A>G	NP_001161407.1:n.*6A>G
NM_001363458.1:c.*6A>G	NP_001350387.1:n.*6A>G
NM_001363458.2:c.*6A>G	NP_001350387.1:n.*6A>G
NM_001363459.1:c.*6A>G	NP_001350388.1:n.*6A>G
NM_001363459.2:c.*6A>G	NP_001350388.1:n.*6A>G
NM_031443.3:c.*6A>G , LRG_664t2:c.*6A>G	NP_113631.1:n.*6A>G
NR_030770.1:n.1423A>G
NR_030770.2:n.1423A>G
ENST00000258781.10:c.*6A>G	ENSP00000258781.6:n.*6A>G
ENST00000381112.7:c.*6A>G	ENSP00000370503.3:n.*6A>G
ENST00000461377.5:n.1694A>G
ENST00000474617.1:c.*6A>G	ENSP00000419474.1:n.*6A>G
ENST00000475551.5:c.*6A>G	ENSP00000417180.1:n.*6A>G
ENST00000477605.1:n.1676A>G
ENST00000481194.1:n.4914A>G
ENST00000488727.5:c.*467A>G	ENSP00000417251.1:n.*467A>G
ENST00000541586.5:c.*6A>G	ENSP00000444725.1:n.*6A>G
ENST00000544363.5:c.*6A>G	ENSP00000438035.1:n.*6A>G
ENST00000648329.1:c.*2129A>G	ENSP00000496916.1:n.*2129A>G
XM_006715785.2:c.*6A>G	XP_006715848.1:n.*6A>G
XM_006715785.4:c.*6A>G	XP_006715848.1:n.*6A>G
XM_006715786.2:c.*6A>G	XP_006715849.1:n.*6A>G
XM_006715786.3:c.*6A>G	XP_006715849.1:n.*6A>G
XM_011515561.1:c.*6A>G	XP_011513863.1:n.*6A>G
XM_011515561.2:c.*6A>G	XP_011513863.1:n.*6A>G
XM_011515562.1:c.*6A>G	XP_011513864.1:n.*6A>G
XM_011515563.1:c.*6A>G	XP_011513865.1:n.*6A>G
XM_011515563.3:c.*6A>G	XP_011513865.1:n.*6A>G
XM_011515564.1:c.*6A>G	XP_011513866.1:n.*6A>G
XR_428088.2:n.1359A>G
XR_428088.3:n.1379A>G