Canonical Allele Identifier: CA1704042097

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038355G= , CM000669.2:g.45038355G=	GRCh38
NC_000007.13:g.45077954G= , CM000669.1:g.45077954G=	GRCh37
NC_000007.12:g.45044479G=	NCBI36
NG_016295.1:g.43168G= , LRG_664:g.43168G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.133G= MANE Select	ENSP00000258781.7:p.Val45=
ENST00000648329.1:c.133G=	ENSP00000496916.1:p.Val45=
ENST00000258781.10:c.133G=	ENSP00000258781.6:p.Val45=
ENST00000381112.7:c.196G=	ENSP00000370503.3:p.Val66=
ENST00000461377.5:n.486G=
ENST00000472223.5:n.200G=
ENST00000474617.1:c.115G=	ENSP00000419474.1:p.Val39=
ENST00000475551.5:c.115G=	ENSP00000417180.1:p.Val39=
ENST00000476594.1:n.95G=
ENST00000478169.5:n.355G=
ENST00000478582.5:n.344G=
ENST00000480658.5:n.229G=
ENST00000482714.5:n.126+10558G=
ENST00000488727.5:c.133G=	ENSP00000417251.1:p.Val45=
ENST00000492883.5:n.229G=
ENST00000541586.5:c.31-25563G=	ENSP00000444725.1:n.31-25563G=
ENST00000544363.5:c.133G=	ENSP00000438035.1:p.Val45=
NM_001029835.2:c.196G= , LRG_664t1:c.196G=	NP_001025006.1:p.Val66=
NM_001167934.1:c.31-25563G=	NP_001161406.1:n.31-25563G=
NM_001167935.1:c.133G=	NP_001161407.1:p.Val45=
NM_031443.3:c.133G= , LRG_664t2:c.133G=	NP_113631.1:p.Val45=
NR_030770.1:n.215G=
XM_006715785.2:c.93+10558G=	XP_006715848.1:n.93+10558G=
XM_006715786.2:c.196G=	XP_006715849.1:p.Val66=
XM_011515561.1:c.196G=	XP_011513863.1:p.Val66=
XM_011515562.1:c.133G=	XP_011513864.1:p.Val45=
XM_011515563.1:c.93+10558G=	XP_011513865.1:n.93+10558G=
XM_011515564.1:c.31-25563G=	XP_011513866.1:n.31-25563G=
XR_428088.2:n.209G=
NM_001363458.1:c.133G=	NP_001350387.1:p.Val45=
NM_001363459.1:c.31-25563G=	NP_001350388.1:n.31-25563G=
XM_006715785.4:c.93+10558G=	XP_006715848.1:n.93+10558G=
XM_006715786.3:c.196G=	XP_006715849.1:p.Val66=
XM_011515561.2:c.196G=	XP_011513863.1:p.Val66=
XM_011515563.3:c.93+10558G=	XP_011513865.1:n.93+10558G=
XM_017012671.1:c.196G=	XP_016868160.1:p.Val66=
XM_017012672.2:c.93+10558G=	XP_016868161.1:n.93+10558G=
XM_017012673.1:c.31-25563G=	XP_016868162.1:n.31-25563G=
XR_428088.3:n.229G=
NM_001363458.2:c.133G=	NP_001350387.1:p.Val45=
NM_001363459.2:c.31-25563G=	NP_001350388.1:n.31-25563G=
NM_031443.4:c.133G= MANE Select	NP_113631.1:p.Val45=
NR_030770.2:n.215G=
NM_001167934.2:c.31-25563G=	NP_001161406.1:n.31-25563G=
NM_001167935.2:c.133G=	NP_001161407.1:p.Val45=