Canonical Allele Identifier: CA2573142184

Gene: CCM2

Linked Data

• ClinVar Variation Id: 1458144
• ClinVar RCV Id: RCV001949433
• dbSNP Id: rs2128729105

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038305_45038309del , CM000669.2:g.45038305_45038309del	GRCh38
NC_000007.13:g.45077904_45077908del , CM000669.1:g.45077904_45077908del	GRCh37
NC_000007.12:g.45044429_45044433del	NCBI36
NG_016295.1:g.43118_43122del , LRG_664:g.43118_43122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.83_87del MANE Select	ENSP00000258781.7:p.Arg28LysfsTer5
ENST00000648329.1:c.83_87del	ENSP00000496916.1:p.Arg28LysfsTer5
ENST00000258781.10:c.83_87del	ENSP00000258781.6:p.Arg28LysfsTer5
ENST00000381112.7:c.146_150del	ENSP00000370503.3:p.Arg49LysfsTer5
ENST00000461377.5:n.436_440del
ENST00000472223.5:n.150_154del
ENST00000474617.1:c.65_69del	ENSP00000419474.1:p.Arg22LysfsTer5
ENST00000475551.5:c.65_69del	ENSP00000417180.1:p.Arg22LysfsTer5
ENST00000476594.1:n.45_49del
ENST00000478169.5:n.305_309del
ENST00000478582.5:n.294_298del
ENST00000480658.5:n.179_183del
ENST00000482714.5:n.126+10508_126+10512del
ENST00000488727.5:c.83_87del	ENSP00000417251.1:p.Arg28LysfsTer5
ENST00000492883.5:n.179_183del
ENST00000541586.5:c.31-25613_31-25609del	ENSP00000444725.1:n.31-25613_31-25609del
ENST00000544363.5:c.83_87del	ENSP00000438035.1:p.Arg28LysfsTer5
NM_001029835.2:c.146_150del , LRG_664t1:c.146_150del	NP_001025006.1:p.Arg49LysfsTer5
NM_001167934.1:c.31-25613_31-25609del	NP_001161406.1:n.31-25613_31-25609del
NM_001167935.1:c.83_87del	NP_001161407.1:p.Arg28LysfsTer5
NM_031443.3:c.83_87del , LRG_664t2:c.83_87del	NP_113631.1:p.Arg28LysfsTer5
NR_030770.1:n.165_169del
XM_006715785.2:c.93+10508_93+10512del	XP_006715848.1:n.93+10508_93+10512del
XM_006715786.2:c.146_150del	XP_006715849.1:p.Arg49LysfsTer5
XM_011515561.1:c.146_150del	XP_011513863.1:p.Arg49LysfsTer5
XM_011515562.1:c.83_87del	XP_011513864.1:p.Arg28LysfsTer5
XM_011515563.1:c.93+10508_93+10512del	XP_011513865.1:n.93+10508_93+10512del
XM_011515564.1:c.31-25613_31-25609del	XP_011513866.1:n.31-25613_31-25609del
XR_428088.2:n.159_163del
NM_001363458.1:c.83_87del	NP_001350387.1:p.Arg28LysfsTer5
NM_001363459.1:c.31-25613_31-25609del	NP_001350388.1:n.31-25613_31-25609del
XM_006715785.4:c.93+10508_93+10512del	XP_006715848.1:n.93+10508_93+10512del
XM_006715786.3:c.146_150del	XP_006715849.1:p.Arg49LysfsTer5
XM_011515561.2:c.146_150del	XP_011513863.1:p.Arg49LysfsTer5
XM_011515563.3:c.93+10508_93+10512del	XP_011513865.1:n.93+10508_93+10512del
XM_017012671.1:c.146_150del	XP_016868160.1:p.Arg49LysfsTer5
XM_017012672.2:c.93+10508_93+10512del	XP_016868161.1:n.93+10508_93+10512del
XM_017012673.1:c.31-25613_31-25609del	XP_016868162.1:n.31-25613_31-25609del
XR_428088.3:n.179_183del
NM_001363458.2:c.83_87del	NP_001350387.1:p.Arg28LysfsTer5
NM_001363459.2:c.31-25613_31-25609del	NP_001350388.1:n.31-25613_31-25609del
NM_031443.4:c.83_87del MANE Select	NP_113631.1:p.Arg28LysfsTer5
NR_030770.2:n.165_169del
NM_001167934.2:c.31-25613_31-25609del	NP_001161406.1:n.31-25613_31-25609del
NM_001167935.2:c.83_87del	NP_001161407.1:p.Arg28LysfsTer5