Canonical Allele Identifier: CA4247280

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075915C>A , CM000669.2:g.45075915C>A	GRCh38
NC_000007.13:g.45115514C>A , CM000669.1:g.45115514C>A	GRCh37
NC_000007.12:g.45082039C>A	NCBI36
NG_016295.1:g.80728C>A , LRG_664:g.80728C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.1193C>A MANE Select	NP_113631.1:p.Ser398Tyr
ENST00000258781.11:c.1193C>A MANE Select	ENSP00000258781.7:p.Ser398Tyr
NM_001029835.2:c.1256C>A , LRG_664t1:c.1256C>A	NP_001025006.1:p.Ser419Tyr
NM_001167934.1:c.1019C>A	NP_001161406.1:p.Ser340Tyr
NM_001167934.2:c.1019C>A	NP_001161406.1:p.Ser340Tyr
NM_001167935.1:c.920C>A	NP_001161407.1:p.Ser307Tyr
NM_001167935.2:c.920C>A	NP_001161407.1:p.Ser307Tyr
NM_001363458.1:c.1316C>A	NP_001350387.1:p.Ser439Tyr
NM_001363458.2:c.1316C>A	NP_001350387.1:p.Ser439Tyr
NM_001363459.1:c.1142C>A	NP_001350388.1:p.Ser381Tyr
NM_001363459.2:c.1142C>A	NP_001350388.1:p.Ser381Tyr
NM_031443.3:c.1193C>A , LRG_664t2:c.1193C>A	NP_113631.1:p.Ser398Tyr
NR_030770.1:n.1275C>A
NR_030770.2:n.1275C>A
ENST00000258781.10:c.1193C>A	ENSP00000258781.6:p.Ser398Tyr
ENST00000381112.7:c.1256C>A	ENSP00000370503.3:p.Ser419Tyr
ENST00000461377.5:n.1546C>A
ENST00000474617.1:c.902C>A	ENSP00000419474.1:p.Ser301Tyr
ENST00000475551.5:c.1175C>A	ENSP00000417180.1:p.Ser392Tyr
ENST00000477605.1:n.1528C>A
ENST00000481194.1:n.4766C>A
ENST00000488727.5:c.*319C>A	ENSP00000417251.1:n.*319C>A
ENST00000541586.5:c.1019C>A	ENSP00000444725.1:p.Ser340Tyr
ENST00000544363.5:c.920C>A	ENSP00000438035.1:p.Ser307Tyr
ENST00000648329.1:c.*1981C>A	ENSP00000496916.1:n.*1981C>A
XM_006715785.2:c.1082C>A	XP_006715848.1:p.Ser361Tyr
XM_006715785.4:c.1082C>A	XP_006715848.1:p.Ser361Tyr
XM_006715786.2:c.983C>A	XP_006715849.1:p.Ser328Tyr
XM_006715786.3:c.983C>A	XP_006715849.1:p.Ser328Tyr
XM_011515561.1:c.1379C>A	XP_011513863.1:p.Ser460Tyr
XM_011515561.2:c.1379C>A	XP_011513863.1:p.Ser460Tyr
XM_011515562.1:c.1316C>A	XP_011513864.1:p.Ser439Tyr
XM_011515563.1:c.1205C>A	XP_011513865.1:p.Ser402Tyr
XM_011515563.3:c.1205C>A	XP_011513865.1:p.Ser402Tyr
XM_011515564.1:c.1142C>A	XP_011513866.1:p.Ser381Tyr
XR_428088.2:n.1211C>A
XR_428088.3:n.1231C>A