Canonical Allele Identifier: CA2695207741
Gene: CCM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45038335_45038338del , CM000669.2:g.45038335_45038338del GRCh38
NC_000007.13:g.45077934_45077937del , CM000669.1:g.45077934_45077937del GRCh37
NC_000007.12:g.45044459_45044462del NCBI36
NG_016295.1:g.43148_43151del , LRG_664:g.43148_43151del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258781.11:c.113_116del MANE Select ENSP00000258781.7:p.Glu38GlyfsTer21
ENST00000648329.1:c.113_116del ENSP00000496916.1:p.Glu38GlyfsTer21
ENST00000258781.10:c.113_116del ENSP00000258781.6:p.Glu38GlyfsTer21
ENST00000381112.7:c.176_179del ENSP00000370503.3:p.Glu59GlyfsTer21
ENST00000461377.5:n.466_469del
ENST00000472223.5:n.180_183del
ENST00000474617.1:c.95_98del ENSP00000419474.1:p.Glu32GlyfsTer21
ENST00000475551.5:c.95_98del ENSP00000417180.1:p.Glu32GlyfsTer21
ENST00000476594.1:n.75_78del
ENST00000478169.5:n.335_338del
ENST00000478582.5:n.324_327del
ENST00000480658.5:n.209_212del
ENST00000482714.5:n.126+10538_126+10541del
ENST00000488727.5:c.113_116del ENSP00000417251.1:p.Glu38GlyfsTer21
ENST00000492883.5:n.209_212del
ENST00000541586.5:c.31-25583_31-25580del ENSP00000444725.1:n.31-25583_31-25580del
ENST00000544363.5:c.113_116del ENSP00000438035.1:p.Glu38GlyfsTer21
NM_001029835.2:c.176_179del , LRG_664t1:c.176_179del NP_001025006.1:p.Glu59GlyfsTer21
NM_001167934.1:c.31-25583_31-25580del NP_001161406.1:n.31-25583_31-25580del
NM_001167935.1:c.113_116del NP_001161407.1:p.Glu38GlyfsTer21
NM_031443.3:c.113_116del , LRG_664t2:c.113_116del NP_113631.1:p.Glu38GlyfsTer21
NR_030770.1:n.195_198del
XM_006715785.2:c.93+10538_93+10541del XP_006715848.1:n.93+10538_93+10541del
XM_006715786.2:c.176_179del XP_006715849.1:p.Glu59GlyfsTer21
XM_011515561.1:c.176_179del XP_011513863.1:p.Glu59GlyfsTer21
XM_011515562.1:c.113_116del XP_011513864.1:p.Glu38GlyfsTer21
XM_011515563.1:c.93+10538_93+10541del XP_011513865.1:n.93+10538_93+10541del
XM_011515564.1:c.31-25583_31-25580del XP_011513866.1:n.31-25583_31-25580del
XR_428088.2:n.189_192del
NM_001363458.1:c.113_116del NP_001350387.1:p.Glu38GlyfsTer21
NM_001363459.1:c.31-25583_31-25580del NP_001350388.1:n.31-25583_31-25580del
XM_006715785.4:c.93+10538_93+10541del XP_006715848.1:n.93+10538_93+10541del
XM_006715786.3:c.176_179del XP_006715849.1:p.Glu59GlyfsTer21
XM_011515561.2:c.176_179del XP_011513863.1:p.Glu59GlyfsTer21
XM_011515563.3:c.93+10538_93+10541del XP_011513865.1:n.93+10538_93+10541del
XM_017012671.1:c.176_179del XP_016868160.1:p.Glu59GlyfsTer21
XM_017012672.2:c.93+10538_93+10541del XP_016868161.1:n.93+10538_93+10541del
XM_017012673.1:c.31-25583_31-25580del XP_016868162.1:n.31-25583_31-25580del
XR_428088.3:n.209_212del
NM_001363458.2:c.113_116del NP_001350387.1:p.Glu38GlyfsTer21
NM_001363459.2:c.31-25583_31-25580del NP_001350388.1:n.31-25583_31-25580del
NM_031443.4:c.113_116del MANE Select NP_113631.1:p.Glu38GlyfsTer21
NR_030770.2:n.195_198del
NM_001167934.2:c.31-25583_31-25580del NP_001161406.1:n.31-25583_31-25580del
NM_001167935.2:c.113_116del NP_001161407.1:p.Glu38GlyfsTer21