Canonical Allele Identifier: CA2695207698

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068465dup , CM000669.2:g.45068465dup	GRCh38
NC_000007.13:g.45108064dup , CM000669.1:g.45108064dup	GRCh37
NC_000007.12:g.45074589dup	NCBI36
NG_016295.1:g.73278dup , LRG_664:g.73278dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.495dup MANE Select	ENSP00000258781.7:p.Ser166GlnfsTer?
ENST00000648329.1:c.495dup	ENSP00000496916.1:p.Ser166GlnfsTer?
ENST00000258781.10:c.495dup	ENSP00000258781.6:p.Ser166GlnfsTer?
ENST00000381112.7:c.558dup	ENSP00000370503.3:p.Ser187GlnfsTer?
ENST00000461377.5:n.848dup
ENST00000472223.5:n.562dup
ENST00000474617.1:c.454+3819dup	ENSP00000419474.1:n.454+3819dup
ENST00000475551.5:c.477dup	ENSP00000417180.1:p.Ser160GlnfsTer?
ENST00000477605.1:n.830dup
ENST00000478582.5:n.684-1361dup
ENST00000480658.5:n.323dup
ENST00000481194.1:n.45-1361dup
ENST00000482714.5:n.417dup
ENST00000488727.5:c.495dup	ENSP00000417251.1:p.Ser166GlnfsTer?
ENST00000492883.5:n.485-1361dup
ENST00000541586.5:c.321dup	ENSP00000444725.1:p.Ser108GlnfsTer?
ENST00000544363.5:c.472+3819dup	ENSP00000438035.1:n.472+3819dup
NM_001029835.2:c.558dup , LRG_664t1:c.558dup	NP_001025006.1:p.Ser187GlnfsTer?
NM_001167934.1:c.321dup	NP_001161406.1:p.Ser108GlnfsTer?
NM_001167935.1:c.472+3819dup	NP_001161407.1:n.472+3819dup
NM_031443.3:c.495dup , LRG_664t2:c.495dup	NP_113631.1:p.Ser166GlnfsTer?
NR_030770.1:n.577dup
XM_006715785.2:c.384dup	XP_006715848.1:p.Ser129GlnfsTer?
XM_006715786.2:c.535+3819dup	XP_006715849.1:n.535+3819dup
XM_011515561.1:c.558dup	XP_011513863.1:p.Ser187GlnfsTer?
XM_011515562.1:c.495dup	XP_011513864.1:p.Ser166GlnfsTer?
XM_011515563.1:c.384dup	XP_011513865.1:p.Ser129GlnfsTer?
XM_011515564.1:c.321dup	XP_011513866.1:p.Ser108GlnfsTer?
XR_428088.2:n.571dup
NM_001363458.1:c.495dup	NP_001350387.1:p.Ser166GlnfsTer?
NM_001363459.1:c.321dup	NP_001350388.1:p.Ser108GlnfsTer?
XM_006715785.4:c.384dup	XP_006715848.1:p.Ser129GlnfsTer?
XM_006715786.3:c.535+3819dup	XP_006715849.1:n.535+3819dup
XM_011515561.2:c.558dup	XP_011513863.1:p.Ser187GlnfsTer?
XM_011515563.3:c.384dup	XP_011513865.1:p.Ser129GlnfsTer?
XM_017012671.1:c.558dup	XP_016868160.1:p.Ser187GlnfsTer?
XM_017012672.2:c.384dup	XP_016868161.1:p.Ser129GlnfsTer?
XM_017012673.1:c.321dup	XP_016868162.1:p.Ser108GlnfsTer?
XR_428088.3:n.591dup
NM_001363458.2:c.495dup	NP_001350387.1:p.Ser166GlnfsTer?
NM_001363459.2:c.321dup	NP_001350388.1:p.Ser108GlnfsTer?
NM_031443.4:c.495dup MANE Select	NP_113631.1:p.Ser166GlnfsTer?
NR_030770.2:n.577dup
NM_001167934.2:c.321dup	NP_001161406.1:p.Ser108GlnfsTer?
NM_001167935.2:c.472+3819dup	NP_001161407.1:n.472+3819dup