Canonical Allele Identifier: CA573825274

Gene: CCM2

Linked Data

• dbSNP Id: rs1224547545
• gnomAD v2: 7-45039983-CCTA-C
• gnomAD v3: 7-45000384-CCTA-C
• gnomAD v4: 7-45000384-CCTA-C
• MyVariant Identifiers: chr7:g.45039984_45039986del (hg19) ; chr7:g.45000385_45000387del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000387_45000389del , CM000669.2:g.45000387_45000389del	GRCh38
NC_000007.13:g.45039986_45039988del , CM000669.1:g.45039986_45039988del	GRCh37
NC_000007.12:g.45006511_45006513del	NCBI36
NG_016295.1:g.5200_5202del , LRG_664:g.5200_5202del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.30+24_30+26del MANE Select	ENSP00000258781.7:n.30+24_30+26del
ENST00000648329.1:c.30+24_30+26del	ENSP00000496916.1:n.30+24_30+26del
ENST00000258781.10:c.30+24_30+26del	ENSP00000258781.6:n.30+24_30+26del
ENST00000461377.5:n.383+530_383+532del
ENST00000478582.5:n.175+24_175+26del
ENST00000488727.5:c.30+24_30+26del	ENSP00000417251.1:n.30+24_30+26del
ENST00000541586.5:c.30+24_30+26del	ENSP00000444725.1:n.30+24_30+26del
ENST00000544363.5:c.30+24_30+26del	ENSP00000438035.1:n.30+24_30+26del
NM_001167934.1:c.30+24_30+26del	NP_001161406.1:n.30+24_30+26del
NM_001167935.1:c.30+24_30+26del	NP_001161407.1:n.30+24_30+26del
NM_031443.3:c.30+24_30+26del , LRG_664t2:c.30+24_30+26del	NP_113631.1:n.30+24_30+26del
NR_030770.1:n.112+530_112+532del
XM_011515562.1:c.30+24_30+26del	XP_011513864.1:n.30+24_30+26del
XM_011515564.1:c.30+24_30+26del	XP_011513866.1:n.30+24_30+26del
NM_001363458.1:c.30+24_30+26del	NP_001350387.1:n.30+24_30+26del
NM_001363459.1:c.30+24_30+26del	NP_001350388.1:n.30+24_30+26del
XM_017012673.1:c.30+24_30+26del	XP_016868162.1:n.30+24_30+26del
NM_001363458.2:c.30+24_30+26del	NP_001350387.1:n.30+24_30+26del
NM_001363459.2:c.30+24_30+26del	NP_001350388.1:n.30+24_30+26del
NM_031443.4:c.30+24_30+26del MANE Select	NP_113631.1:n.30+24_30+26del
NR_030770.2:n.112+530_112+532del
NM_001167934.2:c.30+24_30+26del	NP_001161406.1:n.30+24_30+26del
NM_001167935.2:c.30+24_30+26del	NP_001161407.1:n.30+24_30+26del