Canonical Allele Identifier: CA1704063426

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068269_45068291delinsATTTAGAGAAGCGAAGTGTGTCT , CM000669.2:g.45068269_45068291delinsATTTAGAGAAGCGAAGTGTGTCT	GRCh38
NC_000007.13:g.45107868_45107890delinsATTTAGAGAAGCGAAGTGTGTCT , CM000669.1:g.45107868_45107890delinsATTTAGAGAAGCGAAGTGTGTCT	GRCh37
NC_000007.12:g.45074393_45074415delinsATTTAGAGAAGCGAAGTGTGTCT	NCBI36
NG_016295.1:g.73082_73104delinsATTTAGAGAAGCGAAGTGTGTCT , LRG_664:g.73082_73104delinsATTTAGAGAAGCGAAGTGTGTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT MANE Select	ENSP00000258781.7:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000648329.1:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000496916.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000258781.10:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000258781.6:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000381112.7:c.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000370503.3:n.536-174_536-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000461377.5:n.826-174_826-152delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000472223.5:n.540-174_540-152delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000474617.1:c.454+3623_454+3645delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000419474.1:n.454+3623_454+3645delinsATTTAGAGAAGCGAAGTG...
ENST00000475551.5:c.455-174_455-152delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000417180.1:n.455-174_455-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000477605.1:n.634_656delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000478582.5:n.684-1557_684-1535delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000480658.5:n.301-174_301-152delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000481194.1:n.45-1557_45-1535delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000482714.5:n.395-174_395-152delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000488727.5:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000417251.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000492883.5:n.485-1557_485-1535delinsATTTAGAGAAGCGAAGTGTGTCT
ENST00000541586.5:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000444725.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTG...
ENST00000544363.5:c.472+3623_472+3645delinsATTTAGAGAAGCGAAGTGTGTCT	ENSP00000438035.1:n.472+3623_472+3645delinsATTTAGAGAAGCGAAGTG...
NM_001029835.2:c.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT , LRG_664t1:c.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001025006.1:n.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT...
NM_001167934.1:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001161406.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT...
NM_001167935.1:c.472+3623_472+3645delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001161407.1:n.472+3623_472+3645delinsATTTAGAGAAGCGAAGTGTGT...
NM_031443.3:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT , LRG_664t2:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_113631.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT
NR_030770.1:n.555-174_555-152delinsATTTAGAGAAGCGAAGTGTGTCT
XM_006715785.2:c.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_006715848.1:n.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_006715786.2:c.535+3623_535+3645delinsATTTAGAGAAGCGAAGTGTGTCT	XP_006715849.1:n.535+3623_535+3645delinsATTTAGAGAAGCGAAGTGTGT...
XM_011515561.1:c.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_011513863.1:n.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_011515562.1:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_011513864.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_011515563.1:c.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_011513865.1:n.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_011515564.1:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_011513866.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XR_428088.2:n.549-174_549-152delinsATTTAGAGAAGCGAAGTGTGTCT
NM_001363458.1:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001350387.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT...
NM_001363459.1:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001350388.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_006715785.4:c.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_006715848.1:n.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_006715786.3:c.535+3623_535+3645delinsATTTAGAGAAGCGAAGTGTGTCT	XP_006715849.1:n.535+3623_535+3645delinsATTTAGAGAAGCGAAGTGTGT...
XM_011515561.2:c.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_011513863.1:n.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_011515563.3:c.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_011513865.1:n.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_017012671.1:c.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_016868160.1:n.536-174_536-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_017012672.2:c.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_016868161.1:n.362-174_362-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XM_017012673.1:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	XP_016868162.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT...
XR_428088.3:n.569-174_569-152delinsATTTAGAGAAGCGAAGTGTGTCT
NM_001363458.2:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001350387.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT...
NM_001363459.2:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001350388.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT...
NM_031443.4:c.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT MANE Select	NP_113631.1:n.473-174_473-152delinsATTTAGAGAAGCGAAGTGTGTCT
NR_030770.2:n.555-174_555-152delinsATTTAGAGAAGCGAAGTGTGTCT
NM_001167934.2:c.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001161406.1:n.299-174_299-152delinsATTTAGAGAAGCGAAGTGTGTCT...
NM_001167935.2:c.472+3623_472+3645delinsATTTAGAGAAGCGAAGTGTGTCT	NP_001161407.1:n.472+3623_472+3645delinsATTTAGAGAAGCGAAGTGTGT...