Canonical Allele Identifier: CA367429960

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45064539T>G , CM000669.2:g.45064539T>G	GRCh38
NC_000007.13:g.45104138T>G , CM000669.1:g.45104138T>G	GRCh37
NC_000007.12:g.45070663T>G	NCBI36
NG_016295.1:g.69352T>G , LRG_664:g.69352T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.365T>G MANE Select	NP_113631.1:p.Leu122Arg
ENST00000258781.11:c.365T>G MANE Select	ENSP00000258781.7:p.Leu122Arg
NM_001029835.2:c.428T>G , LRG_664t1:c.428T>G	NP_001025006.1:p.Leu143Arg
NM_001167934.1:c.191T>G	NP_001161406.1:p.Leu64Arg
NM_001167934.2:c.191T>G	NP_001161406.1:p.Leu64Arg
NM_001167935.1:c.365T>G	NP_001161407.1:p.Leu122Arg
NM_001167935.2:c.365T>G	NP_001161407.1:p.Leu122Arg
NM_001363458.1:c.365T>G	NP_001350387.1:p.Leu122Arg
NM_001363458.2:c.365T>G	NP_001350387.1:p.Leu122Arg
NM_001363459.1:c.191T>G	NP_001350388.1:p.Leu64Arg
NM_001363459.2:c.191T>G	NP_001350388.1:p.Leu64Arg
NM_031443.3:c.365T>G , LRG_664t2:c.365T>G	NP_113631.1:p.Leu122Arg
NR_030770.1:n.447T>G
NR_030770.2:n.447T>G
ENST00000258781.10:c.365T>G	ENSP00000258781.6:p.Leu122Arg
ENST00000381112.7:c.428T>G	ENSP00000370503.3:p.Leu143Arg
ENST00000461377.5:n.718T>G
ENST00000472223.5:n.432T>G
ENST00000474617.1:c.347T>G	ENSP00000419474.1:p.Leu116Arg
ENST00000475551.5:c.347T>G	ENSP00000417180.1:p.Leu116Arg
ENST00000476594.1:n.450T>G
ENST00000478582.5:n.576T>G
ENST00000480658.5:n.301-3904T>G
ENST00000482714.5:n.287T>G
ENST00000488727.5:c.365T>G	ENSP00000417251.1:p.Leu122Arg
ENST00000492883.5:n.377T>G
ENST00000541586.5:c.191T>G	ENSP00000444725.1:p.Leu64Arg
ENST00000544363.5:c.365T>G	ENSP00000438035.1:p.Leu122Arg
ENST00000648329.1:c.365T>G	ENSP00000496916.1:p.Leu122Arg
XM_006715785.2:c.254T>G	XP_006715848.1:p.Leu85Arg
XM_006715785.4:c.254T>G	XP_006715848.1:p.Leu85Arg
XM_006715786.2:c.428T>G	XP_006715849.1:p.Leu143Arg
XM_006715786.3:c.428T>G	XP_006715849.1:p.Leu143Arg
XM_011515561.1:c.428T>G	XP_011513863.1:p.Leu143Arg
XM_011515561.2:c.428T>G	XP_011513863.1:p.Leu143Arg
XM_011515562.1:c.365T>G	XP_011513864.1:p.Leu122Arg
XM_011515563.1:c.254T>G	XP_011513865.1:p.Leu85Arg
XM_011515563.3:c.254T>G	XP_011513865.1:p.Leu85Arg
XM_011515564.1:c.191T>G	XP_011513866.1:p.Leu64Arg
XM_017012671.1:c.428T>G	XP_016868160.1:p.Leu143Arg
XM_017012672.2:c.254T>G	XP_016868161.1:p.Leu85Arg
XM_017012673.1:c.191T>G	XP_016868162.1:p.Leu64Arg
XR_428088.2:n.441T>G
XR_428088.3:n.461T>G