Canonical Allele Identifier: CA1704041995

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038298_45038300delinsAAG , CM000669.2:g.45038298_45038300delinsAAG	GRCh38
NC_000007.13:g.45077897_45077899delinsAAG , CM000669.1:g.45077897_45077899delinsAAG	GRCh37
NC_000007.12:g.45044422_45044424delinsAAG	NCBI36
NG_016295.1:g.43111_43113delinsAAG , LRG_664:g.43111_43113delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.76_78delinsAAG MANE Select	ENSP00000258781.7:p.Lys26=
ENST00000648329.1:c.76_78delinsAAG	ENSP00000496916.1:p.Lys26=
ENST00000258781.10:c.76_78delinsAAG	ENSP00000258781.6:p.Lys26=
ENST00000381112.7:c.139_141delinsAAG	ENSP00000370503.3:p.Lys47=
ENST00000461377.5:n.429_431delinsAAG
ENST00000472223.5:n.143_145delinsAAG
ENST00000474617.1:c.58_60delinsAAG	ENSP00000419474.1:p.Lys20=
ENST00000475551.5:c.58_60delinsAAG	ENSP00000417180.1:p.Lys20=
ENST00000476594.1:n.38_40delinsAAG
ENST00000478169.5:n.298_300delinsAAG
ENST00000478582.5:n.287_289delinsAAG
ENST00000480658.5:n.172_174delinsAAG
ENST00000482714.5:n.126+10501_126+10503delinsAAG
ENST00000488727.5:c.76_78delinsAAG	ENSP00000417251.1:p.Lys26=
ENST00000492883.5:n.172_174delinsAAG
ENST00000541586.5:c.31-25620_31-25618delinsAAG	ENSP00000444725.1:n.31-25620_31-25618delinsAAG
ENST00000544363.5:c.76_78delinsAAG	ENSP00000438035.1:p.Lys26=
NM_001029835.2:c.139_141delinsAAG , LRG_664t1:c.139_141delinsAAG	NP_001025006.1:p.Lys47=
NM_001167934.1:c.31-25620_31-25618delinsAAG	NP_001161406.1:n.31-25620_31-25618delinsAAG
NM_001167935.1:c.76_78delinsAAG	NP_001161407.1:p.Lys26=
NM_031443.3:c.76_78delinsAAG , LRG_664t2:c.76_78delinsAAG	NP_113631.1:p.Lys26=
NR_030770.1:n.158_160delinsAAG
XM_006715785.2:c.93+10501_93+10503delinsAAG	XP_006715848.1:n.93+10501_93+10503delinsAAG
XM_006715786.2:c.139_141delinsAAG	XP_006715849.1:p.Lys47=
XM_011515561.1:c.139_141delinsAAG	XP_011513863.1:p.Lys47=
XM_011515562.1:c.76_78delinsAAG	XP_011513864.1:p.Lys26=
XM_011515563.1:c.93+10501_93+10503delinsAAG	XP_011513865.1:n.93+10501_93+10503delinsAAG
XM_011515564.1:c.31-25620_31-25618delinsAAG	XP_011513866.1:n.31-25620_31-25618delinsAAG
XR_428088.2:n.152_154delinsAAG
NM_001363458.1:c.76_78delinsAAG	NP_001350387.1:p.Lys26=
NM_001363459.1:c.31-25620_31-25618delinsAAG	NP_001350388.1:n.31-25620_31-25618delinsAAG
XM_006715785.4:c.93+10501_93+10503delinsAAG	XP_006715848.1:n.93+10501_93+10503delinsAAG
XM_006715786.3:c.139_141delinsAAG	XP_006715849.1:p.Lys47=
XM_011515561.2:c.139_141delinsAAG	XP_011513863.1:p.Lys47=
XM_011515563.3:c.93+10501_93+10503delinsAAG	XP_011513865.1:n.93+10501_93+10503delinsAAG
XM_017012671.1:c.139_141delinsAAG	XP_016868160.1:p.Lys47=
XM_017012672.2:c.93+10501_93+10503delinsAAG	XP_016868161.1:n.93+10501_93+10503delinsAAG
XM_017012673.1:c.31-25620_31-25618delinsAAG	XP_016868162.1:n.31-25620_31-25618delinsAAG
XR_428088.3:n.172_174delinsAAG
NM_001363458.2:c.76_78delinsAAG	NP_001350387.1:p.Lys26=
NM_001363459.2:c.31-25620_31-25618delinsAAG	NP_001350388.1:n.31-25620_31-25618delinsAAG
NM_031443.4:c.76_78delinsAAG MANE Select	NP_113631.1:p.Lys26=
NR_030770.2:n.158_160delinsAAG
NM_001167934.2:c.31-25620_31-25618delinsAAG	NP_001161406.1:n.31-25620_31-25618delinsAAG
NM_001167935.2:c.76_78delinsAAG	NP_001161407.1:p.Lys26=