Canonical Allele Identifier: CA4246967

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45064558G>A , CM000669.2:g.45064558G>A	GRCh38
NC_000007.13:g.45104157G>A , CM000669.1:g.45104157G>A	GRCh37
NC_000007.12:g.45070682G>A	NCBI36
NG_016295.1:g.69371G>A , LRG_664:g.69371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.384G>A MANE Select	ENSP00000258781.7:p.Glu128=
ENST00000648329.1:c.384G>A	ENSP00000496916.1:p.Glu128=
ENST00000258781.10:c.384G>A	ENSP00000258781.6:p.Glu128=
ENST00000381112.7:c.447G>A	ENSP00000370503.3:p.Glu149=
ENST00000461377.5:n.737G>A
ENST00000472223.5:n.451G>A
ENST00000474617.1:c.366G>A	ENSP00000419474.1:p.Glu122=
ENST00000475551.5:c.366G>A	ENSP00000417180.1:p.Glu122=
ENST00000476594.1:n.469G>A
ENST00000478582.5:n.595G>A
ENST00000480658.5:n.301-3885G>A
ENST00000482714.5:n.306G>A
ENST00000488727.5:c.384G>A	ENSP00000417251.1:p.Glu128=
ENST00000492883.5:n.396G>A
ENST00000541586.5:c.210G>A	ENSP00000444725.1:p.Glu70=
ENST00000544363.5:c.384G>A	ENSP00000438035.1:p.Glu128=
NM_001029835.2:c.447G>A , LRG_664t1:c.447G>A	NP_001025006.1:p.Glu149=
NM_001167934.1:c.210G>A	NP_001161406.1:p.Glu70=
NM_001167935.1:c.384G>A	NP_001161407.1:p.Glu128=
NM_031443.3:c.384G>A , LRG_664t2:c.384G>A	NP_113631.1:p.Glu128=
NR_030770.1:n.466G>A
XM_006715785.2:c.273G>A	XP_006715848.1:p.Glu91=
XM_006715786.2:c.447G>A	XP_006715849.1:p.Glu149=
XM_011515561.1:c.447G>A	XP_011513863.1:p.Glu149=
XM_011515562.1:c.384G>A	XP_011513864.1:p.Glu128=
XM_011515563.1:c.273G>A	XP_011513865.1:p.Glu91=
XM_011515564.1:c.210G>A	XP_011513866.1:p.Glu70=
XR_428088.2:n.460G>A
NM_001363458.1:c.384G>A	NP_001350387.1:p.Glu128=
NM_001363459.1:c.210G>A	NP_001350388.1:p.Glu70=
XM_006715785.4:c.273G>A	XP_006715848.1:p.Glu91=
XM_006715786.3:c.447G>A	XP_006715849.1:p.Glu149=
XM_011515561.2:c.447G>A	XP_011513863.1:p.Glu149=
XM_011515563.3:c.273G>A	XP_011513865.1:p.Glu91=
XM_017012671.1:c.447G>A	XP_016868160.1:p.Glu149=
XM_017012672.2:c.273G>A	XP_016868161.1:p.Glu91=
XM_017012673.1:c.210G>A	XP_016868162.1:p.Glu70=
XR_428088.3:n.480G>A
NM_001363458.2:c.384G>A	NP_001350387.1:p.Glu128=
NM_001363459.2:c.210G>A	NP_001350388.1:p.Glu70=
NM_031443.4:c.384G>A MANE Select	NP_113631.1:p.Glu128=
NR_030770.2:n.466G>A
NM_001167934.2:c.210G>A	NP_001161406.1:p.Glu70=
NM_001167935.2:c.384G>A	NP_001161407.1:p.Glu128=