Canonical Allele Identifier: CA367429905

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45064512T>C , CM000669.2:g.45064512T>C	GRCh38
NC_000007.13:g.45104111T>C , CM000669.1:g.45104111T>C	GRCh37
NC_000007.12:g.45070636T>C	NCBI36
NG_016295.1:g.69325T>C , LRG_664:g.69325T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.338T>C MANE Select	NP_113631.1:p.Leu113Pro
ENST00000258781.11:c.338T>C MANE Select	ENSP00000258781.7:p.Leu113Pro
NM_001029835.2:c.401T>C , LRG_664t1:c.401T>C	NP_001025006.1:p.Leu134Pro
NM_001167934.1:c.164T>C	NP_001161406.1:p.Leu55Pro
NM_001167934.2:c.164T>C	NP_001161406.1:p.Leu55Pro
NM_001167935.1:c.338T>C	NP_001161407.1:p.Leu113Pro
NM_001167935.2:c.338T>C	NP_001161407.1:p.Leu113Pro
NM_001363458.1:c.338T>C	NP_001350387.1:p.Leu113Pro
NM_001363458.2:c.338T>C	NP_001350387.1:p.Leu113Pro
NM_001363459.1:c.164T>C	NP_001350388.1:p.Leu55Pro
NM_001363459.2:c.164T>C	NP_001350388.1:p.Leu55Pro
NM_031443.3:c.338T>C , LRG_664t2:c.338T>C	NP_113631.1:p.Leu113Pro
NR_030770.1:n.420T>C
NR_030770.2:n.420T>C
ENST00000258781.10:c.338T>C	ENSP00000258781.6:p.Leu113Pro
ENST00000381112.7:c.401T>C	ENSP00000370503.3:p.Leu134Pro
ENST00000461377.5:n.691T>C
ENST00000472223.5:n.405T>C
ENST00000474617.1:c.320T>C	ENSP00000419474.1:p.Leu107Pro
ENST00000475551.5:c.320T>C	ENSP00000417180.1:p.Leu107Pro
ENST00000476594.1:n.423T>C
ENST00000478582.5:n.549T>C
ENST00000480658.5:n.301-3931T>C
ENST00000482714.5:n.260T>C
ENST00000488727.5:c.338T>C	ENSP00000417251.1:p.Leu113Pro
ENST00000492883.5:n.350T>C
ENST00000541586.5:c.164T>C	ENSP00000444725.1:p.Leu55Pro
ENST00000544363.5:c.338T>C	ENSP00000438035.1:p.Leu113Pro
ENST00000648329.1:c.338T>C	ENSP00000496916.1:p.Leu113Pro
XM_006715785.2:c.227T>C	XP_006715848.1:p.Leu76Pro
XM_006715785.4:c.227T>C	XP_006715848.1:p.Leu76Pro
XM_006715786.2:c.401T>C	XP_006715849.1:p.Leu134Pro
XM_006715786.3:c.401T>C	XP_006715849.1:p.Leu134Pro
XM_011515561.1:c.401T>C	XP_011513863.1:p.Leu134Pro
XM_011515561.2:c.401T>C	XP_011513863.1:p.Leu134Pro
XM_011515562.1:c.338T>C	XP_011513864.1:p.Leu113Pro
XM_011515563.1:c.227T>C	XP_011513865.1:p.Leu76Pro
XM_011515563.3:c.227T>C	XP_011513865.1:p.Leu76Pro
XM_011515564.1:c.164T>C	XP_011513866.1:p.Leu55Pro
XM_017012671.1:c.401T>C	XP_016868160.1:p.Leu134Pro
XM_017012672.2:c.227T>C	XP_016868161.1:p.Leu76Pro
XM_017012673.1:c.164T>C	XP_016868162.1:p.Leu55Pro
XR_428088.2:n.414T>C
XR_428088.3:n.434T>C