Canonical Allele Identifier: CA2580077186

Gene: CCM2

Linked Data

• ClinVar Variation Id: 2021487
• ClinVar RCV Id: RCV002862691

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038272_45038276del , CM000669.2:g.45038272_45038276del	GRCh38
NC_000007.13:g.45077871_45077875del , CM000669.1:g.45077871_45077875del	GRCh37
NC_000007.12:g.45044396_45044400del	NCBI36
NG_016295.1:g.43085_43089del , LRG_664:g.43085_43089del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.50_54del MANE Select	ENSP00000258781.7:p.Phe17SerfsTer7
ENST00000648329.1:c.50_54del	ENSP00000496916.1:p.Phe17SerfsTer7
ENST00000258781.10:c.50_54del	ENSP00000258781.6:p.Phe17SerfsTer7
ENST00000381112.7:c.113_117del	ENSP00000370503.3:p.Phe38SerfsTer7
ENST00000461377.5:n.403_407del
ENST00000472223.5:n.117_121del
ENST00000474617.1:c.32_36del	ENSP00000419474.1:p.Phe11SerfsTer7
ENST00000475551.5:c.32_36del	ENSP00000417180.1:p.Phe11SerfsTer7
ENST00000476594.1:n.12_16del
ENST00000478169.5:n.272_276del
ENST00000478582.5:n.261_265del
ENST00000480658.5:n.146_150del
ENST00000482714.5:n.126+10475_126+10479del
ENST00000488727.5:c.50_54del	ENSP00000417251.1:p.Phe17SerfsTer7
ENST00000492883.5:n.146_150del
ENST00000541586.5:c.31-25646_31-25642del	ENSP00000444725.1:n.31-25646_31-25642del
ENST00000544363.5:c.50_54del	ENSP00000438035.1:p.Phe17SerfsTer7
NM_001029835.2:c.113_117del , LRG_664t1:c.113_117del	NP_001025006.1:p.Phe38SerfsTer7
NM_001167934.1:c.31-25646_31-25642del	NP_001161406.1:n.31-25646_31-25642del
NM_001167935.1:c.50_54del	NP_001161407.1:p.Phe17SerfsTer7
NM_031443.3:c.50_54del , LRG_664t2:c.50_54del	NP_113631.1:p.Phe17SerfsTer7
NR_030770.1:n.132_136del
XM_006715785.2:c.93+10475_93+10479del	XP_006715848.1:n.93+10475_93+10479del
XM_006715786.2:c.113_117del	XP_006715849.1:p.Phe38SerfsTer7
XM_011515561.1:c.113_117del	XP_011513863.1:p.Phe38SerfsTer7
XM_011515562.1:c.50_54del	XP_011513864.1:p.Phe17SerfsTer7
XM_011515563.1:c.93+10475_93+10479del	XP_011513865.1:n.93+10475_93+10479del
XM_011515564.1:c.31-25646_31-25642del	XP_011513866.1:n.31-25646_31-25642del
XR_428088.2:n.126_130del
NM_001363458.1:c.50_54del	NP_001350387.1:p.Phe17SerfsTer7
NM_001363459.1:c.31-25646_31-25642del	NP_001350388.1:n.31-25646_31-25642del
XM_006715785.4:c.93+10475_93+10479del	XP_006715848.1:n.93+10475_93+10479del
XM_006715786.3:c.113_117del	XP_006715849.1:p.Phe38SerfsTer7
XM_011515561.2:c.113_117del	XP_011513863.1:p.Phe38SerfsTer7
XM_011515563.3:c.93+10475_93+10479del	XP_011513865.1:n.93+10475_93+10479del
XM_017012671.1:c.113_117del	XP_016868160.1:p.Phe38SerfsTer7
XM_017012672.2:c.93+10475_93+10479del	XP_016868161.1:n.93+10475_93+10479del
XM_017012673.1:c.31-25646_31-25642del	XP_016868162.1:n.31-25646_31-25642del
XR_428088.3:n.146_150del
NM_001363458.2:c.50_54del	NP_001350387.1:p.Phe17SerfsTer7
NM_001363459.2:c.31-25646_31-25642del	NP_001350388.1:n.31-25646_31-25642del
NM_031443.4:c.50_54del MANE Select	NP_113631.1:p.Phe17SerfsTer7
NR_030770.2:n.132_136del
NM_001167934.2:c.31-25646_31-25642del	NP_001161406.1:n.31-25646_31-25642del
NM_001167935.2:c.50_54del	NP_001161407.1:p.Phe17SerfsTer7