Canonical Allele Identifier: CA573825260

Gene: CCM2

Linked Data

• dbSNP Id: rs1180788830
• gnomAD v2: 7-45039893-GGGGCGGGCC-G
• gnomAD v3: 7-45000294-GGGGCGGGCC-G
• gnomAD v4: 7-45000294-GGGGCGGGCC-G
• MyVariant Identifiers: chr7:g.45039894_45039902del (hg19) ; chr7:g.45000295_45000303del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000305_45000313del , CM000669.2:g.45000305_45000313del	GRCh38
NC_000007.13:g.45039904_45039912del , CM000669.1:g.45039904_45039912del	GRCh37
NC_000007.12:g.45006429_45006437del	NCBI36
NG_016295.1:g.5118_5126del , LRG_664:g.5118_5126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-29_-21del MANE Select	ENSP00000258781.7:n.-29_-21del
ENST00000258781.10:c.-29_-21del	ENSP00000258781.6:n.-29_-21del
ENST00000461377.5:n.383+448_383+456del
ENST00000478582.5:n.117_125del
ENST00000488727.5:c.-29_-21del	ENSP00000417251.1:n.-29_-21del
ENST00000541586.5:c.-29_-21del	ENSP00000444725.1:n.-29_-21del
ENST00000544363.5:c.-29_-21del	ENSP00000438035.1:n.-29_-21del
NM_001167934.1:c.-29_-21del	NP_001161406.1:n.-29_-21del
NM_001167935.1:c.-29_-21del	NP_001161407.1:n.-29_-21del
NM_031443.3:c.-29_-21del , LRG_664t2:c.-29_-21del	NP_113631.1:n.-29_-21del
NR_030770.1:n.112+448_112+456del
XM_011515562.1:c.-29_-21del	XP_011513864.1:n.-29_-21del
XM_011515564.1:c.-29_-21del	XP_011513866.1:n.-29_-21del
NM_001363458.1:c.-29_-21del	NP_001350387.1:n.-29_-21del
NM_001363459.1:c.-29_-21del	NP_001350388.1:n.-29_-21del
XM_017012673.1:c.-29_-21del	XP_016868162.1:n.-29_-21del
NM_001363458.2:c.-29_-21del	NP_001350387.1:n.-29_-21del
NM_001363459.2:c.-29_-21del	NP_001350388.1:n.-29_-21del
NM_031443.4:c.-29_-21del MANE Select	NP_113631.1:n.-29_-21del
NR_030770.2:n.112+448_112+456del
NM_001167934.2:c.-29_-21del	NP_001161406.1:n.-29_-21del
NM_001167935.2:c.-29_-21del	NP_001161407.1:n.-29_-21del