Canonical Allele Identifier: CA2682672326

Gene: CCM2

Linked Data

• gnomAD v4: 7-45000236-AGCGCGGGGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCTGGCGGCGGGGCTCCCGGGGCGGGCCGGGCGGGCCGCGGGAGCCGCACGCGGCGATATGGAAGAGGAGGGCAAGAAGGGCAAGAAGGTGAGCGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000248_45000382del , CM000669.2:g.45000248_45000382del	GRCh38
NC_000007.13:g.45039847_45039981del , CM000669.1:g.45039847_45039981del	GRCh37
NC_000007.12:g.45006372_45006506del	NCBI36
NG_016295.1:g.5061_5195del , LRG_664:g.5061_5195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.-86_30+19del
ENST00000258781.10:c.-86_30+19del
ENST00000461377.5:n.383+391_383+525del
ENST00000478582.5:n.60_175+19del
ENST00000541586.5:c.-86_30+19del
ENST00000544363.5:c.-86_30+19del
NM_001167934.1:c.-86_30+19del
NM_001167935.1:c.-86_30+19del
NM_031443.3:c.-86_30+19del , LRG_664t2:c.-86_30+19del
NR_030770.1:n.112+391_112+525del
XM_011515562.1:c.-86_30+19del
XM_011515564.1:c.-86_30+19del
NM_001363458.1:c.-86_30+19del
NM_001363459.1:c.-86_30+19del
XM_017012673.1:c.-86_30+19del
NM_001363458.2:c.-86_30+19del
NM_001363459.2:c.-86_30+19del
NM_031443.4:c.-86_30+19del
NR_030770.2:n.112+391_112+525del
NM_001167934.2:c.-86_30+19del
NM_001167935.2:c.-86_30+19del