Canonical Allele Identifier: CA2596697750
Gene: CCM2 HGNC NCBI

Linked Data

dbSNP Id: rs2128749789

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45068380del , CM000669.2:g.45068380del GRCh38
NC_000007.13:g.45107979del , CM000669.1:g.45107979del GRCh37
NC_000007.12:g.45074504del NCBI36
NG_016295.1:g.73193del , LRG_664:g.73193del

Transcript Alleles

HGVS Amino-acid Change
ENST00000258781.11:c.473-63del MANE Select ENSP00000258781.7:n.473-63del
ENST00000648329.1:c.473-63del ENSP00000496916.1:n.473-63del
ENST00000258781.10:c.473-63del ENSP00000258781.6:n.473-63del
ENST00000381112.7:c.536-63del ENSP00000370503.3:n.536-63del
ENST00000461377.5:n.826-63del
ENST00000472223.5:n.540-63del
ENST00000474617.1:c.454+3734del ENSP00000419474.1:n.454+3734del
ENST00000475551.5:c.455-63del ENSP00000417180.1:n.455-63del
ENST00000477605.1:n.745del
ENST00000478582.5:n.684-1446del
ENST00000480658.5:n.301-63del
ENST00000481194.1:n.45-1446del
ENST00000482714.5:n.395-63del
ENST00000488727.5:c.473-63del ENSP00000417251.1:n.473-63del
ENST00000492883.5:n.485-1446del
ENST00000541586.5:c.299-63del ENSP00000444725.1:n.299-63del
ENST00000544363.5:c.472+3734del ENSP00000438035.1:n.472+3734del
NM_001029835.2:c.536-63del , LRG_664t1:c.536-63del NP_001025006.1:n.536-63del
NM_001167934.1:c.299-63del NP_001161406.1:n.299-63del
NM_001167935.1:c.472+3734del NP_001161407.1:n.472+3734del
NM_031443.3:c.473-63del , LRG_664t2:c.473-63del NP_113631.1:n.473-63del
NR_030770.1:n.555-63del
XM_006715785.2:c.362-63del XP_006715848.1:n.362-63del
XM_006715786.2:c.535+3734del XP_006715849.1:n.535+3734del
XM_011515561.1:c.536-63del XP_011513863.1:n.536-63del
XM_011515562.1:c.473-63del XP_011513864.1:n.473-63del
XM_011515563.1:c.362-63del XP_011513865.1:n.362-63del
XM_011515564.1:c.299-63del XP_011513866.1:n.299-63del
XR_428088.2:n.549-63del
NM_001363458.1:c.473-63del NP_001350387.1:n.473-63del
NM_001363459.1:c.299-63del NP_001350388.1:n.299-63del
XM_006715785.4:c.362-63del XP_006715848.1:n.362-63del
XM_006715786.3:c.535+3734del XP_006715849.1:n.535+3734del
XM_011515561.2:c.536-63del XP_011513863.1:n.536-63del
XM_011515563.3:c.362-63del XP_011513865.1:n.362-63del
XM_017012671.1:c.536-63del XP_016868160.1:n.536-63del
XM_017012672.2:c.362-63del XP_016868161.1:n.362-63del
XM_017012673.1:c.299-63del XP_016868162.1:n.299-63del
XR_428088.3:n.569-63del
NM_001363458.2:c.473-63del NP_001350387.1:n.473-63del
NM_001363459.2:c.299-63del NP_001350388.1:n.299-63del
NM_031443.4:c.473-63del MANE Select NP_113631.1:n.473-63del
NR_030770.2:n.555-63del
NM_001167934.2:c.299-63del NP_001161406.1:n.299-63del
NM_001167935.2:c.472+3734del NP_001161407.1:n.472+3734del