Canonical Allele Identifier: CA1100830468

Gene: CCM2

Linked Data

• dbSNP Id: rs1795530836
• gnomAD v3: 7-45000243-GGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT-G
• gnomAD v4: 7-45000243-GGGCGGCGGGCCCGGGTCGAGCATGTAGCGGCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000253_45000287del , CM000669.2:g.45000253_45000287del	GRCh38
NC_000007.13:g.45039852_45039886del , CM000669.1:g.45039852_45039886del	GRCh37
NC_000007.12:g.45006377_45006411del	NCBI36
NG_016295.1:g.5066_5100del , LRG_664:g.5066_5100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-81_-47del MANE Select	ENSP00000258781.7:n.-81_-47del
ENST00000258781.10:c.-81_-47del	ENSP00000258781.6:n.-81_-47del
ENST00000461377.5:n.383+396_383+430del
ENST00000478582.5:n.65_99del
ENST00000541586.5:c.-81_-47del	ENSP00000444725.1:n.-81_-47del
ENST00000544363.5:c.-81_-47del	ENSP00000438035.1:n.-81_-47del
NM_001167934.1:c.-81_-47del	NP_001161406.1:n.-81_-47del
NM_001167935.1:c.-81_-47del	NP_001161407.1:n.-81_-47del
NM_031443.3:c.-81_-47del , LRG_664t2:c.-81_-47del	NP_113631.1:n.-81_-47del
NR_030770.1:n.112+396_112+430del
XM_011515562.1:c.-81_-47del	XP_011513864.1:n.-81_-47del
XM_011515564.1:c.-81_-47del	XP_011513866.1:n.-81_-47del
NM_001363458.1:c.-81_-47del	NP_001350387.1:n.-81_-47del
NM_001363459.1:c.-81_-47del	NP_001350388.1:n.-81_-47del
XM_017012673.1:c.-81_-47del	XP_016868162.1:n.-81_-47del
NM_001363458.2:c.-81_-47del	NP_001350387.1:n.-81_-47del
NM_001363459.2:c.-81_-47del	NP_001350388.1:n.-81_-47del
NM_031443.4:c.-81_-47del MANE Select	NP_113631.1:n.-81_-47del
NR_030770.2:n.112+396_112+430del
NM_001167934.2:c.-81_-47del	NP_001161406.1:n.-81_-47del
NM_001167935.2:c.-81_-47del	NP_001161407.1:n.-81_-47del