Canonical Allele Identifier: CA1704042064

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038348_45038350delinsGCA , CM000669.2:g.45038348_45038350delinsGCA	GRCh38
NC_000007.13:g.45077947_45077949delinsGCA , CM000669.1:g.45077947_45077949delinsGCA	GRCh37
NC_000007.12:g.45044472_45044474delinsGCA	NCBI36
NG_016295.1:g.43161_43163delinsGCA , LRG_664:g.43161_43163delinsGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.126_128delinsGCA MANE Select	ENSP00000258781.7:p.Leu42=
ENST00000648329.1:c.126_128delinsGCA	ENSP00000496916.1:p.Leu42=
ENST00000258781.10:c.126_128delinsGCA	ENSP00000258781.6:p.Leu42=
ENST00000381112.7:c.189_191delinsGCA	ENSP00000370503.3:p.Leu63=
ENST00000461377.5:n.479_481delinsGCA
ENST00000472223.5:n.193_195delinsGCA
ENST00000474617.1:c.108_110delinsGCA	ENSP00000419474.1:p.Leu36=
ENST00000475551.5:c.108_110delinsGCA	ENSP00000417180.1:p.Leu36=
ENST00000476594.1:n.88_90delinsGCA
ENST00000478169.5:n.348_350delinsGCA
ENST00000478582.5:n.337_339delinsGCA
ENST00000480658.5:n.222_224delinsGCA
ENST00000482714.5:n.126+10551_126+10553delinsGCA
ENST00000488727.5:c.126_128delinsGCA	ENSP00000417251.1:p.Leu42=
ENST00000492883.5:n.222_224delinsGCA
ENST00000541586.5:c.31-25570_31-25568delinsGCA	ENSP00000444725.1:n.31-25570_31-25568deli...
ENST00000544363.5:c.126_128delinsGCA	ENSP00000438035.1:p.Leu42=
NM_001029835.2:c.189_191delinsGCA , LRG_664t1:c.189_191delinsGCA	NP_001025006.1:p.Leu63=
NM_001167934.1:c.31-25570_31-25568delinsGCA	NP_001161406.1:n.31-25570_31-25568delinsG...
NM_001167935.1:c.126_128delinsGCA	NP_001161407.1:p.Leu42=
NM_031443.3:c.126_128delinsGCA , LRG_664t2:c.126_128delinsGCA	NP_113631.1:p.Leu42=
NR_030770.1:n.208_210delinsGCA
XM_006715785.2:c.93+10551_93+10553delinsGCA	XP_006715848.1:n.93+10551_93+10553delinsG...
XM_006715786.2:c.189_191delinsGCA	XP_006715849.1:p.Leu63=
XM_011515561.1:c.189_191delinsGCA	XP_011513863.1:p.Leu63=
XM_011515562.1:c.126_128delinsGCA	XP_011513864.1:p.Leu42=
XM_011515563.1:c.93+10551_93+10553delinsGCA	XP_011513865.1:n.93+10551_93+10553delinsG...
XM_011515564.1:c.31-25570_31-25568delinsGCA	XP_011513866.1:n.31-25570_31-25568delinsG...
XR_428088.2:n.202_204delinsGCA
NM_001363458.1:c.126_128delinsGCA	NP_001350387.1:p.Leu42=
NM_001363459.1:c.31-25570_31-25568delinsGCA	NP_001350388.1:n.31-25570_31-25568delinsG...
XM_006715785.4:c.93+10551_93+10553delinsGCA	XP_006715848.1:n.93+10551_93+10553delinsG...
XM_006715786.3:c.189_191delinsGCA	XP_006715849.1:p.Leu63=
XM_011515561.2:c.189_191delinsGCA	XP_011513863.1:p.Leu63=
XM_011515563.3:c.93+10551_93+10553delinsGCA	XP_011513865.1:n.93+10551_93+10553delinsG...
XM_017012671.1:c.189_191delinsGCA	XP_016868160.1:p.Leu63=
XM_017012672.2:c.93+10551_93+10553delinsGCA	XP_016868161.1:n.93+10551_93+10553delinsG...
XM_017012673.1:c.31-25570_31-25568delinsGCA	XP_016868162.1:n.31-25570_31-25568delinsG...
XR_428088.3:n.222_224delinsGCA
NM_001363458.2:c.126_128delinsGCA	NP_001350387.1:p.Leu42=
NM_001363459.2:c.31-25570_31-25568delinsGCA	NP_001350388.1:n.31-25570_31-25568delinsG...
NM_031443.4:c.126_128delinsGCA MANE Select	NP_113631.1:p.Leu42=
NR_030770.2:n.208_210delinsGCA
NM_001167934.2:c.31-25570_31-25568delinsGCA	NP_001161406.1:n.31-25570_31-25568delinsG...
NM_001167935.2:c.126_128delinsGCA	NP_001161407.1:p.Leu42=