Canonical Allele Identifier: CA367430453

Gene: CCM2

Linked Data

• gnomAD v4: 7-45068571-G-A
• COSMIC: COSM3832873
• MyVariant Identifiers: chr7:g.45108170G>A (hg19) ; chr7:g.45068571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068571G>A , CM000669.2:g.45068571G>A	GRCh38
NC_000007.13:g.45108170G>A , CM000669.1:g.45108170G>A	GRCh37
NC_000007.12:g.45074695G>A	NCBI36
NG_016295.1:g.73384G>A , LRG_664:g.73384G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.601G>A MANE Select	ENSP00000258781.7:p.Glu201Lys
ENST00000648329.1:c.601G>A	ENSP00000496916.1:p.Glu201Lys
ENST00000258781.10:c.601G>A	ENSP00000258781.6:p.Glu201Lys
ENST00000381112.7:c.664G>A	ENSP00000370503.3:p.Glu222Lys
ENST00000461377.5:n.954G>A
ENST00000472223.5:n.668G>A
ENST00000474617.1:c.454+3925G>A	ENSP00000419474.1:n.454+3925G>A
ENST00000475551.5:c.583G>A	ENSP00000417180.1:p.Glu195Lys
ENST00000477605.1:n.936G>A
ENST00000478582.5:n.684-1255G>A
ENST00000480382.1:c.78G>A
ENST00000480658.5:n.429G>A
ENST00000481194.1:n.45-1255G>A
ENST00000482714.5:n.523G>A
ENST00000488727.5:c.601G>A	ENSP00000417251.1:p.Glu201Lys
ENST00000492883.5:n.485-1255G>A
ENST00000541586.5:c.427G>A	ENSP00000444725.1:p.Glu143Lys
ENST00000544363.5:c.472+3925G>A	ENSP00000438035.1:n.472+3925G>A
NM_001029835.2:c.664G>A , LRG_664t1:c.664G>A	NP_001025006.1:p.Glu222Lys
NM_001167934.1:c.427G>A	NP_001161406.1:p.Glu143Lys
NM_001167935.1:c.472+3925G>A	NP_001161407.1:n.472+3925G>A
NM_031443.3:c.601G>A , LRG_664t2:c.601G>A	NP_113631.1:p.Glu201Lys
NR_030770.1:n.683G>A
XM_006715785.2:c.490G>A	XP_006715848.1:p.Glu164Lys
XM_006715786.2:c.535+3925G>A	XP_006715849.1:n.535+3925G>A
XM_011515561.1:c.664G>A	XP_011513863.1:p.Glu222Lys
XM_011515562.1:c.601G>A	XP_011513864.1:p.Glu201Lys
XM_011515563.1:c.490G>A	XP_011513865.1:p.Glu164Lys
XM_011515564.1:c.427G>A	XP_011513866.1:p.Glu143Lys
XR_428088.2:n.677G>A
NM_001363458.1:c.601G>A	NP_001350387.1:p.Glu201Lys
NM_001363459.1:c.427G>A	NP_001350388.1:p.Glu143Lys
XM_006715785.4:c.490G>A	XP_006715848.1:p.Glu164Lys
XM_006715786.3:c.535+3925G>A	XP_006715849.1:n.535+3925G>A
XM_011515561.2:c.664G>A	XP_011513863.1:p.Glu222Lys
XM_011515563.3:c.490G>A	XP_011513865.1:p.Glu164Lys
XM_017012671.1:c.664G>A	XP_016868160.1:p.Glu222Lys
XM_017012672.2:c.490G>A	XP_016868161.1:p.Glu164Lys
XM_017012673.1:c.427G>A	XP_016868162.1:p.Glu143Lys
XR_428088.3:n.697G>A
NM_001363458.2:c.601G>A	NP_001350387.1:p.Glu201Lys
NM_001363459.2:c.427G>A	NP_001350388.1:p.Glu143Lys
NM_031443.4:c.601G>A MANE Select	NP_113631.1:p.Glu201Lys
NR_030770.2:n.683G>A
NM_001167934.2:c.427G>A	NP_001161406.1:p.Glu143Lys
NM_001167935.2:c.472+3925G>A	NP_001161407.1:n.472+3925G>A