Canonical Allele Identifier: CA1704063398

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068214_45068219delinsGATGAC , CM000669.2:g.45068214_45068219delinsGATGAC	GRCh38
NC_000007.13:g.45107813_45107818delinsGATGAC , CM000669.1:g.45107813_45107818delinsGATGAC	GRCh37
NC_000007.12:g.45074338_45074343delinsGATGAC	NCBI36
NG_016295.1:g.73027_73032delinsGATGAC , LRG_664:g.73027_73032delinsGATGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.473-229_473-224delinsGATGAC MANE Select	ENSP00000258781.7:n.473-229_473-224delinsGATGAC
ENST00000648329.1:c.473-229_473-224delinsGATGAC	ENSP00000496916.1:n.473-229_473-224delinsGATGAC
ENST00000258781.10:c.473-229_473-224delinsGATGAC	ENSP00000258781.6:n.473-229_473-224delinsGATGAC
ENST00000381112.7:c.536-229_536-224delinsGATGAC	ENSP00000370503.3:n.536-229_536-224delinsGATGAC
ENST00000461377.5:n.826-229_826-224delinsGATGAC
ENST00000472223.5:n.540-229_540-224delinsGATGAC
ENST00000474617.1:c.454+3568_454+3573delinsGATGAC	ENSP00000419474.1:n.454+3568_454+3573delinsGATGAC
ENST00000475551.5:c.455-229_455-224delinsGATGAC	ENSP00000417180.1:n.455-229_455-224delinsGATGAC
ENST00000477605.1:n.579_584delinsGATGAC
ENST00000478582.5:n.684-1612_684-1607delinsGATGAC
ENST00000480658.5:n.301-229_301-224delinsGATGAC
ENST00000481194.1:n.45-1612_45-1607delinsGATGAC
ENST00000482714.5:n.395-229_395-224delinsGATGAC
ENST00000488727.5:c.473-229_473-224delinsGATGAC	ENSP00000417251.1:n.473-229_473-224delinsGATGAC
ENST00000492883.5:n.485-1612_485-1607delinsGATGAC
ENST00000541586.5:c.299-229_299-224delinsGATGAC	ENSP00000444725.1:n.299-229_299-224delinsGATGAC
ENST00000544363.5:c.472+3568_472+3573delinsGATGAC	ENSP00000438035.1:n.472+3568_472+3573delinsGATGAC
NM_001029835.2:c.536-229_536-224delinsGATGAC , LRG_664t1:c.536-229_536-224delinsGATGAC	NP_001025006.1:n.536-229_536-224delinsGATGAC
NM_001167934.1:c.299-229_299-224delinsGATGAC	NP_001161406.1:n.299-229_299-224delinsGATGAC
NM_001167935.1:c.472+3568_472+3573delinsGATGAC	NP_001161407.1:n.472+3568_472+3573delinsGATGAC
NM_031443.3:c.473-229_473-224delinsGATGAC , LRG_664t2:c.473-229_473-224delinsGATGAC	NP_113631.1:n.473-229_473-224delinsGATGAC
NR_030770.1:n.555-229_555-224delinsGATGAC
XM_006715785.2:c.362-229_362-224delinsGATGAC	XP_006715848.1:n.362-229_362-224delinsGATGAC
XM_006715786.2:c.535+3568_535+3573delinsGATGAC	XP_006715849.1:n.535+3568_535+3573delinsGATGAC
XM_011515561.1:c.536-229_536-224delinsGATGAC	XP_011513863.1:n.536-229_536-224delinsGATGAC
XM_011515562.1:c.473-229_473-224delinsGATGAC	XP_011513864.1:n.473-229_473-224delinsGATGAC
XM_011515563.1:c.362-229_362-224delinsGATGAC	XP_011513865.1:n.362-229_362-224delinsGATGAC
XM_011515564.1:c.299-229_299-224delinsGATGAC	XP_011513866.1:n.299-229_299-224delinsGATGAC
XR_428088.2:n.549-229_549-224delinsGATGAC
NM_001363458.1:c.473-229_473-224delinsGATGAC	NP_001350387.1:n.473-229_473-224delinsGATGAC
NM_001363459.1:c.299-229_299-224delinsGATGAC	NP_001350388.1:n.299-229_299-224delinsGATGAC
XM_006715785.4:c.362-229_362-224delinsGATGAC	XP_006715848.1:n.362-229_362-224delinsGATGAC
XM_006715786.3:c.535+3568_535+3573delinsGATGAC	XP_006715849.1:n.535+3568_535+3573delinsGATGAC
XM_011515561.2:c.536-229_536-224delinsGATGAC	XP_011513863.1:n.536-229_536-224delinsGATGAC
XM_011515563.3:c.362-229_362-224delinsGATGAC	XP_011513865.1:n.362-229_362-224delinsGATGAC
XM_017012671.1:c.536-229_536-224delinsGATGAC	XP_016868160.1:n.536-229_536-224delinsGATGAC
XM_017012672.2:c.362-229_362-224delinsGATGAC	XP_016868161.1:n.362-229_362-224delinsGATGAC
XM_017012673.1:c.299-229_299-224delinsGATGAC	XP_016868162.1:n.299-229_299-224delinsGATGAC
XR_428088.3:n.569-229_569-224delinsGATGAC
NM_001363458.2:c.473-229_473-224delinsGATGAC	NP_001350387.1:n.473-229_473-224delinsGATGAC
NM_001363459.2:c.299-229_299-224delinsGATGAC	NP_001350388.1:n.299-229_299-224delinsGATGAC
NM_031443.4:c.473-229_473-224delinsGATGAC MANE Select	NP_113631.1:n.473-229_473-224delinsGATGAC
NR_030770.2:n.555-229_555-224delinsGATGAC
NM_001167934.2:c.299-229_299-224delinsGATGAC	NP_001161406.1:n.299-229_299-224delinsGATGAC
NM_001167935.2:c.472+3568_472+3573delinsGATGAC	NP_001161407.1:n.472+3568_472+3573delinsGATGAC