Canonical Allele Identifier: CA1704063399

Gene: CCM2

Linked Data

• dbSNP Id: rs1798878117

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068218_45068222del , CM000669.2:g.45068218_45068222del	GRCh38
NC_000007.13:g.45107817_45107821del , CM000669.1:g.45107817_45107821del	GRCh37
NC_000007.12:g.45074342_45074346del	NCBI36
NG_016295.1:g.73031_73035del , LRG_664:g.73031_73035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.473-225_473-221del MANE Select	ENSP00000258781.7:n.473-225_473-221del
ENST00000648329.1:c.473-225_473-221del	ENSP00000496916.1:n.473-225_473-221del
ENST00000258781.10:c.473-225_473-221del	ENSP00000258781.6:n.473-225_473-221del
ENST00000381112.7:c.536-225_536-221del	ENSP00000370503.3:n.536-225_536-221del
ENST00000461377.5:n.826-225_826-221del
ENST00000472223.5:n.540-225_540-221del
ENST00000474617.1:c.454+3572_454+3576del	ENSP00000419474.1:n.454+3572_454+3576del
ENST00000475551.5:c.455-225_455-221del	ENSP00000417180.1:n.455-225_455-221del
ENST00000477605.1:n.583_587del
ENST00000478582.5:n.684-1608_684-1604del
ENST00000480658.5:n.301-225_301-221del
ENST00000481194.1:n.45-1608_45-1604del
ENST00000482714.5:n.395-225_395-221del
ENST00000488727.5:c.473-225_473-221del	ENSP00000417251.1:n.473-225_473-221del
ENST00000492883.5:n.485-1608_485-1604del
ENST00000541586.5:c.299-225_299-221del	ENSP00000444725.1:n.299-225_299-221del
ENST00000544363.5:c.472+3572_472+3576del	ENSP00000438035.1:n.472+3572_472+3576del
NM_001029835.2:c.536-225_536-221del , LRG_664t1:c.536-225_536-221del	NP_001025006.1:n.536-225_536-221del
NM_001167934.1:c.299-225_299-221del	NP_001161406.1:n.299-225_299-221del
NM_001167935.1:c.472+3572_472+3576del	NP_001161407.1:n.472+3572_472+3576del
NM_031443.3:c.473-225_473-221del , LRG_664t2:c.473-225_473-221del	NP_113631.1:n.473-225_473-221del
NR_030770.1:n.555-225_555-221del
XM_006715785.2:c.362-225_362-221del	XP_006715848.1:n.362-225_362-221del
XM_006715786.2:c.535+3572_535+3576del	XP_006715849.1:n.535+3572_535+3576del
XM_011515561.1:c.536-225_536-221del	XP_011513863.1:n.536-225_536-221del
XM_011515562.1:c.473-225_473-221del	XP_011513864.1:n.473-225_473-221del
XM_011515563.1:c.362-225_362-221del	XP_011513865.1:n.362-225_362-221del
XM_011515564.1:c.299-225_299-221del	XP_011513866.1:n.299-225_299-221del
XR_428088.2:n.549-225_549-221del
NM_001363458.1:c.473-225_473-221del	NP_001350387.1:n.473-225_473-221del
NM_001363459.1:c.299-225_299-221del	NP_001350388.1:n.299-225_299-221del
XM_006715785.4:c.362-225_362-221del	XP_006715848.1:n.362-225_362-221del
XM_006715786.3:c.535+3572_535+3576del	XP_006715849.1:n.535+3572_535+3576del
XM_011515561.2:c.536-225_536-221del	XP_011513863.1:n.536-225_536-221del
XM_011515563.3:c.362-225_362-221del	XP_011513865.1:n.362-225_362-221del
XM_017012671.1:c.536-225_536-221del	XP_016868160.1:n.536-225_536-221del
XM_017012672.2:c.362-225_362-221del	XP_016868161.1:n.362-225_362-221del
XM_017012673.1:c.299-225_299-221del	XP_016868162.1:n.299-225_299-221del
XR_428088.3:n.569-225_569-221del
NM_001363458.2:c.473-225_473-221del	NP_001350387.1:n.473-225_473-221del
NM_001363459.2:c.299-225_299-221del	NP_001350388.1:n.299-225_299-221del
NM_031443.4:c.473-225_473-221del MANE Select	NP_113631.1:n.473-225_473-221del
NR_030770.2:n.555-225_555-221del
NM_001167934.2:c.299-225_299-221del	NP_001161406.1:n.299-225_299-221del
NM_001167935.2:c.472+3572_472+3576del	NP_001161407.1:n.472+3572_472+3576del