Canonical Allele Identifier: CA1704063546

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068563T= , CM000669.2:g.45068563T=	GRCh38
NC_000007.13:g.45108162T= , CM000669.1:g.45108162T=	GRCh37
NC_000007.12:g.45074687T=	NCBI36
NG_016295.1:g.73376T= , LRG_664:g.73376T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.593T= MANE Select	ENSP00000258781.7:p.Leu198=
ENST00000648329.1:c.593T=	ENSP00000496916.1:p.Leu198=
ENST00000258781.10:c.593T=	ENSP00000258781.6:p.Leu198=
ENST00000381112.7:c.656T=	ENSP00000370503.3:p.Leu219=
ENST00000461377.5:n.946T=
ENST00000472223.5:n.660T=
ENST00000474617.1:c.454+3917T=	ENSP00000419474.1:n.454+3917T=
ENST00000475551.5:c.575T=	ENSP00000417180.1:p.Leu192=
ENST00000477605.1:n.928T=
ENST00000478582.5:n.684-1263T=
ENST00000480382.1:c.70T=
ENST00000480658.5:n.421T=
ENST00000481194.1:n.45-1263T=
ENST00000482714.5:n.515T=
ENST00000488727.5:c.593T=	ENSP00000417251.1:p.Leu198=
ENST00000492883.5:n.485-1263T=
ENST00000541586.5:c.419T=	ENSP00000444725.1:p.Leu140=
ENST00000544363.5:c.472+3917T=	ENSP00000438035.1:n.472+3917T=
NM_001029835.2:c.656T= , LRG_664t1:c.656T=	NP_001025006.1:p.Leu219=
NM_001167934.1:c.419T=	NP_001161406.1:p.Leu140=
NM_001167935.1:c.472+3917T=	NP_001161407.1:n.472+3917T=
NM_031443.3:c.593T= , LRG_664t2:c.593T=	NP_113631.1:p.Leu198=
NR_030770.1:n.675T=
XM_006715785.2:c.482T=	XP_006715848.1:p.Leu161=
XM_006715786.2:c.535+3917T=	XP_006715849.1:n.535+3917T=
XM_011515561.1:c.656T=	XP_011513863.1:p.Leu219=
XM_011515562.1:c.593T=	XP_011513864.1:p.Leu198=
XM_011515563.1:c.482T=	XP_011513865.1:p.Leu161=
XM_011515564.1:c.419T=	XP_011513866.1:p.Leu140=
XR_428088.2:n.669T=
NM_001363458.1:c.593T=	NP_001350387.1:p.Leu198=
NM_001363459.1:c.419T=	NP_001350388.1:p.Leu140=
XM_006715785.4:c.482T=	XP_006715848.1:p.Leu161=
XM_006715786.3:c.535+3917T=	XP_006715849.1:n.535+3917T=
XM_011515561.2:c.656T=	XP_011513863.1:p.Leu219=
XM_011515563.3:c.482T=	XP_011513865.1:p.Leu161=
XM_017012671.1:c.656T=	XP_016868160.1:p.Leu219=
XM_017012672.2:c.482T=	XP_016868161.1:p.Leu161=
XM_017012673.1:c.419T=	XP_016868162.1:p.Leu140=
XR_428088.3:n.689T=
NM_001363458.2:c.593T=	NP_001350387.1:p.Leu198=
NM_001363459.2:c.419T=	NP_001350388.1:p.Leu140=
NM_031443.4:c.593T= MANE Select	NP_113631.1:p.Leu198=
NR_030770.2:n.675T=
NM_001167934.2:c.419T=	NP_001161406.1:p.Leu140=
NM_001167935.2:c.472+3917T=	NP_001161407.1:n.472+3917T=