Canonical Allele Identifier: CA1704022478

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000243_45000278delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT , CM000669.2:g.45000243_45000278delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	GRCh38
NC_000007.13:g.45039842_45039877delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT , CM000669.1:g.45039842_45039877delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	GRCh37
NC_000007.12:g.45006367_45006402delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NCBI36
NG_016295.1:g.5056_5091delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT , LRG_664:g.5056_5091delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT MANE Select	ENSP00000258781.7:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAG...
ENST00000258781.10:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	ENSP00000258781.6:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAG...
ENST00000461377.5:n.383+386_383+421delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT
ENST00000478582.5:n.55_90delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT
ENST00000541586.5:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	ENSP00000444725.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAG...
ENST00000544363.5:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	ENSP00000438035.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAG...
NM_001167934.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001161406.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_001167935.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001161407.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_031443.3:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT , LRG_664t2:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_113631.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTG...
NR_030770.1:n.112+386_112+421delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT
XM_011515562.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	XP_011513864.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
XM_011515564.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	XP_011513866.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_001363458.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001350387.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_001363459.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001350388.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
XM_017012673.1:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	XP_016868162.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_001363458.2:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001350387.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_001363459.2:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001350388.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_031443.4:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT MANE Select	NP_113631.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTG...
NR_030770.2:n.112+386_112+421delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT
NM_001167934.2:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001161406.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...
NM_001167935.2:c.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT	NP_001161407.1:n.-91_-56delinsGGGCGGCGGGCCCGGGTCGAGCATGTAGCGG...