Canonical Allele Identifier: CA2739266415

Gene: CCM2

Linked Data

• ClinVar Variation Id: 2864552
• ClinVar RCV Id: RCV003605490

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038388del , CM000669.2:g.45038388del	GRCh38
NC_000007.13:g.45077987del , CM000669.1:g.45077987del	GRCh37
NC_000007.12:g.45044512del	NCBI36
NG_016295.1:g.43201del , LRG_664:g.43201del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.166del MANE Select	ENSP00000258781.7:p.Asp56ThrfsTer4
ENST00000648329.1:c.166del	ENSP00000496916.1:p.Asp56ThrfsTer4
ENST00000258781.10:c.166del	ENSP00000258781.6:p.Asp56ThrfsTer4
ENST00000381112.7:c.229del	ENSP00000370503.3:p.Asp77ThrfsTer4
ENST00000461377.5:n.519del
ENST00000472223.5:n.233del
ENST00000474617.1:c.148del	ENSP00000419474.1:p.Asp50ThrfsTer4
ENST00000475551.5:c.148del	ENSP00000417180.1:p.Asp50ThrfsTer4
ENST00000476594.1:n.128del
ENST00000478169.5:n.388del
ENST00000478582.5:n.377del
ENST00000480658.5:n.262del
ENST00000482714.5:n.126+10591del
ENST00000488727.5:c.166del	ENSP00000417251.1:p.Asp56ThrfsTer4
ENST00000492883.5:n.262del
ENST00000541586.5:c.31-25530del	ENSP00000444725.1:n.31-25530del
ENST00000544363.5:c.166del	ENSP00000438035.1:p.Asp56ThrfsTer4
NM_001029835.2:c.229del , LRG_664t1:c.229del	NP_001025006.1:p.Asp77ThrfsTer4
NM_001167934.1:c.31-25530del	NP_001161406.1:n.31-25530del
NM_001167935.1:c.166del	NP_001161407.1:p.Asp56ThrfsTer4
NM_031443.3:c.166del , LRG_664t2:c.166del	NP_113631.1:p.Asp56ThrfsTer4
NR_030770.1:n.248del
XM_006715785.2:c.93+10591del	XP_006715848.1:n.93+10591del
XM_006715786.2:c.229del	XP_006715849.1:p.Asp77ThrfsTer4
XM_011515561.1:c.229del	XP_011513863.1:p.Asp77ThrfsTer4
XM_011515562.1:c.166del	XP_011513864.1:p.Asp56ThrfsTer4
XM_011515563.1:c.93+10591del	XP_011513865.1:n.93+10591del
XM_011515564.1:c.31-25530del	XP_011513866.1:n.31-25530del
XR_428088.2:n.242del
NM_001363458.1:c.166del	NP_001350387.1:p.Asp56ThrfsTer4
NM_001363459.1:c.31-25530del	NP_001350388.1:n.31-25530del
XM_006715785.4:c.93+10591del	XP_006715848.1:n.93+10591del
XM_006715786.3:c.229del	XP_006715849.1:p.Asp77ThrfsTer4
XM_011515561.2:c.229del	XP_011513863.1:p.Asp77ThrfsTer4
XM_011515563.3:c.93+10591del	XP_011513865.1:n.93+10591del
XM_017012671.1:c.229del	XP_016868160.1:p.Asp77ThrfsTer4
XM_017012672.2:c.93+10591del	XP_016868161.1:n.93+10591del
XM_017012673.1:c.31-25530del	XP_016868162.1:n.31-25530del
XR_428088.3:n.262del
NM_001363458.2:c.166del	NP_001350387.1:p.Asp56ThrfsTer4
NM_001363459.2:c.31-25530del	NP_001350388.1:n.31-25530del
NM_031443.4:c.166del MANE Select	NP_113631.1:p.Asp56ThrfsTer4
NR_030770.2:n.248del
NM_001167934.2:c.31-25530del	NP_001161406.1:n.31-25530del
NM_001167935.2:c.166del	NP_001161407.1:p.Asp56ThrfsTer4