Canonical Allele Identifier: CA367430440

Gene: CCM2

Linked Data

• dbSNP Id: rs1312836146
• gnomAD v2: 7-45108161-C-G
• gnomAD v3: 7-45068562-C-G
• gnomAD v4: 7-45068562-C-G
• MyVariant Identifiers: chr7:g.45108161C>G (hg19) ; chr7:g.45068562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068562C>G , CM000669.2:g.45068562C>G	GRCh38
NC_000007.13:g.45108161C>G , CM000669.1:g.45108161C>G	GRCh37
NC_000007.12:g.45074686C>G	NCBI36
NG_016295.1:g.73375C>G , LRG_664:g.73375C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.592C>G MANE Select	ENSP00000258781.7:p.Leu198Val
ENST00000648329.1:c.592C>G	ENSP00000496916.1:p.Leu198Val
ENST00000258781.10:c.592C>G	ENSP00000258781.6:p.Leu198Val
ENST00000381112.7:c.655C>G	ENSP00000370503.3:p.Leu219Val
ENST00000461377.5:n.945C>G
ENST00000472223.5:n.659C>G
ENST00000474617.1:c.454+3916C>G	ENSP00000419474.1:n.454+3916C>G
ENST00000475551.5:c.574C>G	ENSP00000417180.1:p.Leu192Val
ENST00000477605.1:n.927C>G
ENST00000478582.5:n.684-1264C>G
ENST00000480382.1:c.69C>G
ENST00000480658.5:n.420C>G
ENST00000481194.1:n.45-1264C>G
ENST00000482714.5:n.514C>G
ENST00000488727.5:c.592C>G	ENSP00000417251.1:p.Leu198Val
ENST00000492883.5:n.485-1264C>G
ENST00000541586.5:c.418C>G	ENSP00000444725.1:p.Leu140Val
ENST00000544363.5:c.472+3916C>G	ENSP00000438035.1:n.472+3916C>G
NM_001029835.2:c.655C>G , LRG_664t1:c.655C>G	NP_001025006.1:p.Leu219Val
NM_001167934.1:c.418C>G	NP_001161406.1:p.Leu140Val
NM_001167935.1:c.472+3916C>G	NP_001161407.1:n.472+3916C>G
NM_031443.3:c.592C>G , LRG_664t2:c.592C>G	NP_113631.1:p.Leu198Val
NR_030770.1:n.674C>G
XM_006715785.2:c.481C>G	XP_006715848.1:p.Leu161Val
XM_006715786.2:c.535+3916C>G	XP_006715849.1:n.535+3916C>G
XM_011515561.1:c.655C>G	XP_011513863.1:p.Leu219Val
XM_011515562.1:c.592C>G	XP_011513864.1:p.Leu198Val
XM_011515563.1:c.481C>G	XP_011513865.1:p.Leu161Val
XM_011515564.1:c.418C>G	XP_011513866.1:p.Leu140Val
XR_428088.2:n.668C>G
NM_001363458.1:c.592C>G	NP_001350387.1:p.Leu198Val
NM_001363459.1:c.418C>G	NP_001350388.1:p.Leu140Val
XM_006715785.4:c.481C>G	XP_006715848.1:p.Leu161Val
XM_006715786.3:c.535+3916C>G	XP_006715849.1:n.535+3916C>G
XM_011515561.2:c.655C>G	XP_011513863.1:p.Leu219Val
XM_011515563.3:c.481C>G	XP_011513865.1:p.Leu161Val
XM_017012671.1:c.655C>G	XP_016868160.1:p.Leu219Val
XM_017012672.2:c.481C>G	XP_016868161.1:p.Leu161Val
XM_017012673.1:c.418C>G	XP_016868162.1:p.Leu140Val
XR_428088.3:n.688C>G
NM_001363458.2:c.592C>G	NP_001350387.1:p.Leu198Val
NM_001363459.2:c.418C>G	NP_001350388.1:p.Leu140Val
NM_031443.4:c.592C>G MANE Select	NP_113631.1:p.Leu198Val
NR_030770.2:n.674C>G
NM_001167934.2:c.418C>G	NP_001161406.1:p.Leu140Val
NM_001167935.2:c.472+3916C>G	NP_001161407.1:n.472+3916C>G