Canonical Allele Identifier: CA3005503532
Gene: CCM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45068550_45068552del , CM000669.2:g.45068550_45068552del GRCh38
NC_000007.13:g.45108149_45108151del , CM000669.1:g.45108149_45108151del GRCh37
NC_000007.12:g.45074674_45074676del NCBI36
NG_016295.1:g.73363_73365del , LRG_664:g.73363_73365del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258781.11:c.580_582del MANE Select ENSP00000258781.7:p.Cys194del
ENST00000648329.1:c.580_582del ENSP00000496916.1:p.Cys194del
ENST00000258781.10:c.580_582del ENSP00000258781.6:p.Cys194del
ENST00000381112.7:c.643_645del ENSP00000370503.3:p.Cys215del
ENST00000461377.5:n.933_935del
ENST00000472223.5:n.647_649del
ENST00000474617.1:c.454+3904_454+3906del ENSP00000419474.1:n.454+3904_454+3906del
ENST00000475551.5:c.562_564del ENSP00000417180.1:p.Cys188del
ENST00000477605.1:n.915_917del
ENST00000478582.5:n.684-1276_684-1274del
ENST00000480382.1:c.57_59del
ENST00000480658.5:n.408_410del
ENST00000481194.1:n.45-1276_45-1274del
ENST00000482714.5:n.502_504del
ENST00000488727.5:c.580_582del ENSP00000417251.1:p.Cys194del
ENST00000492883.5:n.485-1276_485-1274del
ENST00000541586.5:c.406_408del ENSP00000444725.1:p.Cys136del
ENST00000544363.5:c.472+3904_472+3906del ENSP00000438035.1:n.472+3904_472+3906del
NM_001029835.2:c.643_645del , LRG_664t1:c.643_645del NP_001025006.1:p.Cys215del
NM_001167934.1:c.406_408del NP_001161406.1:p.Cys136del
NM_001167935.1:c.472+3904_472+3906del NP_001161407.1:n.472+3904_472+3906del
NM_031443.3:c.580_582del , LRG_664t2:c.580_582del NP_113631.1:p.Cys194del
NR_030770.1:n.662_664del
XM_006715785.2:c.469_471del XP_006715848.1:p.Cys157del
XM_006715786.2:c.535+3904_535+3906del XP_006715849.1:n.535+3904_535+3906del
XM_011515561.1:c.643_645del XP_011513863.1:p.Cys215del
XM_011515562.1:c.580_582del XP_011513864.1:p.Cys194del
XM_011515563.1:c.469_471del XP_011513865.1:p.Cys157del
XM_011515564.1:c.406_408del XP_011513866.1:p.Cys136del
XR_428088.2:n.656_658del
NM_001363458.1:c.580_582del NP_001350387.1:p.Cys194del
NM_001363459.1:c.406_408del NP_001350388.1:p.Cys136del
XM_006715785.4:c.469_471del XP_006715848.1:p.Cys157del
XM_006715786.3:c.535+3904_535+3906del XP_006715849.1:n.535+3904_535+3906del
XM_011515561.2:c.643_645del XP_011513863.1:p.Cys215del
XM_011515563.3:c.469_471del XP_011513865.1:p.Cys157del
XM_017012671.1:c.643_645del XP_016868160.1:p.Cys215del
XM_017012672.2:c.469_471del XP_016868161.1:p.Cys157del
XM_017012673.1:c.406_408del XP_016868162.1:p.Cys136del
XR_428088.3:n.676_678del
NM_001363458.2:c.580_582del NP_001350387.1:p.Cys194del
NM_001363459.2:c.406_408del NP_001350388.1:p.Cys136del
NM_031443.4:c.580_582del MANE Select NP_113631.1:p.Cys194del
NR_030770.2:n.662_664del
NM_001167934.2:c.406_408del NP_001161406.1:p.Cys136del
NM_001167935.2:c.472+3904_472+3906del NP_001161407.1:n.472+3904_472+3906del