Canonical Allele Identifier: CA1704063407

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068236_45068237delinsCT , CM000669.2:g.45068236_45068237delinsCT	GRCh38
NC_000007.13:g.45107835_45107836delinsCT , CM000669.1:g.45107835_45107836delinsCT	GRCh37
NC_000007.12:g.45074360_45074361delinsCT	NCBI36
NG_016295.1:g.73049_73050delinsCT , LRG_664:g.73049_73050delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.473-207_473-206delinsCT MANE Select	ENSP00000258781.7:n.473-207_473-206delinsCT
ENST00000648329.1:c.473-207_473-206delinsCT	ENSP00000496916.1:n.473-207_473-206delinsCT
ENST00000258781.10:c.473-207_473-206delinsCT	ENSP00000258781.6:n.473-207_473-206delinsCT
ENST00000381112.7:c.536-207_536-206delinsCT	ENSP00000370503.3:n.536-207_536-206delinsCT
ENST00000461377.5:n.826-207_826-206delinsCT
ENST00000472223.5:n.540-207_540-206delinsCT
ENST00000474617.1:c.454+3590_454+3591delinsCT	ENSP00000419474.1:n.454+3590_454+3591delinsCT
ENST00000475551.5:c.455-207_455-206delinsCT	ENSP00000417180.1:n.455-207_455-206delinsCT
ENST00000477605.1:n.601_602delinsCT
ENST00000478582.5:n.684-1590_684-1589delinsCT
ENST00000480658.5:n.301-207_301-206delinsCT
ENST00000481194.1:n.45-1590_45-1589delinsCT
ENST00000482714.5:n.395-207_395-206delinsCT
ENST00000488727.5:c.473-207_473-206delinsCT	ENSP00000417251.1:n.473-207_473-206delinsCT
ENST00000492883.5:n.485-1590_485-1589delinsCT
ENST00000541586.5:c.299-207_299-206delinsCT	ENSP00000444725.1:n.299-207_299-206delinsCT
ENST00000544363.5:c.472+3590_472+3591delinsCT	ENSP00000438035.1:n.472+3590_472+3591delinsCT
NM_001029835.2:c.536-207_536-206delinsCT , LRG_664t1:c.536-207_536-206delinsCT	NP_001025006.1:n.536-207_536-206delinsCT
NM_001167934.1:c.299-207_299-206delinsCT	NP_001161406.1:n.299-207_299-206delinsCT
NM_001167935.1:c.472+3590_472+3591delinsCT	NP_001161407.1:n.472+3590_472+3591delinsCT
NM_031443.3:c.473-207_473-206delinsCT , LRG_664t2:c.473-207_473-206delinsCT	NP_113631.1:n.473-207_473-206delinsCT
NR_030770.1:n.555-207_555-206delinsCT
XM_006715785.2:c.362-207_362-206delinsCT	XP_006715848.1:n.362-207_362-206delinsCT
XM_006715786.2:c.535+3590_535+3591delinsCT	XP_006715849.1:n.535+3590_535+3591delinsCT
XM_011515561.1:c.536-207_536-206delinsCT	XP_011513863.1:n.536-207_536-206delinsCT
XM_011515562.1:c.473-207_473-206delinsCT	XP_011513864.1:n.473-207_473-206delinsCT
XM_011515563.1:c.362-207_362-206delinsCT	XP_011513865.1:n.362-207_362-206delinsCT
XM_011515564.1:c.299-207_299-206delinsCT	XP_011513866.1:n.299-207_299-206delinsCT
XR_428088.2:n.549-207_549-206delinsCT
NM_001363458.1:c.473-207_473-206delinsCT	NP_001350387.1:n.473-207_473-206delinsCT
NM_001363459.1:c.299-207_299-206delinsCT	NP_001350388.1:n.299-207_299-206delinsCT
XM_006715785.4:c.362-207_362-206delinsCT	XP_006715848.1:n.362-207_362-206delinsCT
XM_006715786.3:c.535+3590_535+3591delinsCT	XP_006715849.1:n.535+3590_535+3591delinsCT
XM_011515561.2:c.536-207_536-206delinsCT	XP_011513863.1:n.536-207_536-206delinsCT
XM_011515563.3:c.362-207_362-206delinsCT	XP_011513865.1:n.362-207_362-206delinsCT
XM_017012671.1:c.536-207_536-206delinsCT	XP_016868160.1:n.536-207_536-206delinsCT
XM_017012672.2:c.362-207_362-206delinsCT	XP_016868161.1:n.362-207_362-206delinsCT
XM_017012673.1:c.299-207_299-206delinsCT	XP_016868162.1:n.299-207_299-206delinsCT
XR_428088.3:n.569-207_569-206delinsCT
NM_001363458.2:c.473-207_473-206delinsCT	NP_001350387.1:n.473-207_473-206delinsCT
NM_001363459.2:c.299-207_299-206delinsCT	NP_001350388.1:n.299-207_299-206delinsCT
NM_031443.4:c.473-207_473-206delinsCT MANE Select	NP_113631.1:n.473-207_473-206delinsCT
NR_030770.2:n.555-207_555-206delinsCT
NM_001167934.2:c.299-207_299-206delinsCT	NP_001161406.1:n.299-207_299-206delinsCT
NM_001167935.2:c.472+3590_472+3591delinsCT	NP_001161407.1:n.472+3590_472+3591delinsCT