Canonical Allele Identifier: CA2542121102

Gene: CCM2

Linked Data

• gnomAD v4: 7-45000221-GCGGGCGGCGCCGGGAGCGCGGGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCTGGCGGCGGGGCTCCCGGGGCGGGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000229_45000309del , CM000669.2:g.45000229_45000309del	GRCh38
NC_000007.13:g.45039828_45039908del , CM000669.1:g.45039828_45039908del	GRCh37
NC_000007.12:g.45006353_45006433del	NCBI36
NG_016295.1:g.5042_5122del , LRG_664:g.5042_5122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-105_-25del MANE Select	ENSP00000258781.7:n.-105_-25del
ENST00000258781.10:c.-105_-25del	ENSP00000258781.6:n.-105_-25del
ENST00000461377.5:n.383+372_383+452del
ENST00000478582.5:n.41_121del
ENST00000541586.5:c.-105_-25del	ENSP00000444725.1:n.-105_-25del
ENST00000544363.5:c.-105_-25del	ENSP00000438035.1:n.-105_-25del
NM_001167934.1:c.-105_-25del	NP_001161406.1:n.-105_-25del
NM_001167935.1:c.-105_-25del	NP_001161407.1:n.-105_-25del
NM_031443.3:c.-105_-25del , LRG_664t2:c.-105_-25del	NP_113631.1:n.-105_-25del
NR_030770.1:n.112+372_112+452del
XM_011515562.1:c.-105_-25del	XP_011513864.1:n.-105_-25del
NM_001363458.1:c.-105_-25del	NP_001350387.1:n.-105_-25del
NM_001363459.1:c.-105_-25del	NP_001350388.1:n.-105_-25del
NM_001363458.2:c.-105_-25del	NP_001350387.1:n.-105_-25del
NM_001363459.2:c.-105_-25del	NP_001350388.1:n.-105_-25del
NM_031443.4:c.-105_-25del MANE Select	NP_113631.1:n.-105_-25del
NR_030770.2:n.112+372_112+452del
NM_001167934.2:c.-105_-25del	NP_001161406.1:n.-105_-25del
NM_001167935.2:c.-105_-25del	NP_001161407.1:n.-105_-25del