Canonical Allele Identifier: CA838832353

Gene: CCM2

Linked Data

• dbSNP Id: rs1378078362
• gnomAD v4: 7-45000340-GAGGAGGGCA-G
• MyVariant Identifiers: chr7:g.45039940_45039948del (hg19) ; chr7:g.45000341_45000349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000343_45000351del , CM000669.2:g.45000343_45000351del	GRCh38
NC_000007.13:g.45039942_45039950del , CM000669.1:g.45039942_45039950del	GRCh37
NC_000007.12:g.45006467_45006475del	NCBI36
NG_016295.1:g.5156_5164del , LRG_664:g.5156_5164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.10_18del MANE Select	ENSP00000258781.7:p.Glu4_Lys6del
ENST00000648329.1:c.10_18del	ENSP00000496916.1:p.Glu4_Lys6del
ENST00000258781.10:c.10_18del	ENSP00000258781.6:p.Glu4_Lys6del
ENST00000461377.5:n.383+486_383+494del
ENST00000478582.5:n.155_163del
ENST00000488727.5:c.10_18del	ENSP00000417251.1:p.Glu4_Lys6del
ENST00000541586.5:c.10_18del	ENSP00000444725.1:p.Glu4_Lys6del
ENST00000544363.5:c.10_18del	ENSP00000438035.1:p.Glu4_Lys6del
NM_001167934.1:c.10_18del	NP_001161406.1:p.Glu4_Lys6del
NM_001167935.1:c.10_18del	NP_001161407.1:p.Glu4_Lys6del
NM_031443.3:c.10_18del , LRG_664t2:c.10_18del	NP_113631.1:p.Glu4_Lys6del
NR_030770.1:n.112+486_112+494del
XM_011515562.1:c.10_18del	XP_011513864.1:p.Glu4_Lys6del
XM_011515564.1:c.10_18del	XP_011513866.1:p.Glu4_Lys6del
NM_001363458.1:c.10_18del	NP_001350387.1:p.Glu4_Lys6del
NM_001363459.1:c.10_18del	NP_001350388.1:p.Glu4_Lys6del
XM_017012673.1:c.10_18del	XP_016868162.1:p.Glu4_Lys6del
NM_001363458.2:c.10_18del	NP_001350387.1:p.Glu4_Lys6del
NM_001363459.2:c.10_18del	NP_001350388.1:p.Glu4_Lys6del
NM_031443.4:c.10_18del MANE Select	NP_113631.1:p.Glu4_Lys6del
NR_030770.2:n.112+486_112+494del
NM_001167934.2:c.10_18del	NP_001161406.1:p.Glu4_Lys6del
NM_001167935.2:c.10_18del	NP_001161407.1:p.Glu4_Lys6del