Canonical Allele Identifier: CA1704042150

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038385_45038387delinsCCA , CM000669.2:g.45038385_45038387delinsCCA	GRCh38
NC_000007.13:g.45077984_45077986delinsCCA , CM000669.1:g.45077984_45077986delinsCCA	GRCh37
NC_000007.12:g.45044509_45044511delinsCCA	NCBI36
NG_016295.1:g.43198_43200delinsCCA , LRG_664:g.43198_43200delinsCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.163_165delinsCCA MANE Select	ENSP00000258781.7:p.Pro55=
ENST00000648329.1:c.163_165delinsCCA	ENSP00000496916.1:p.Pro55=
ENST00000258781.10:c.163_165delinsCCA	ENSP00000258781.6:p.Pro55=
ENST00000381112.7:c.226_228delinsCCA	ENSP00000370503.3:p.Pro76=
ENST00000461377.5:n.516_518delinsCCA
ENST00000472223.5:n.230_232delinsCCA
ENST00000474617.1:c.145_147delinsCCA	ENSP00000419474.1:p.Pro49=
ENST00000475551.5:c.145_147delinsCCA	ENSP00000417180.1:p.Pro49=
ENST00000476594.1:n.125_127delinsCCA
ENST00000478169.5:n.385_387delinsCCA
ENST00000478582.5:n.374_376delinsCCA
ENST00000480658.5:n.259_261delinsCCA
ENST00000482714.5:n.126+10588_126+10590delinsCCA
ENST00000488727.5:c.163_165delinsCCA	ENSP00000417251.1:p.Pro55=
ENST00000492883.5:n.259_261delinsCCA
ENST00000541586.5:c.31-25533_31-25531delinsCCA	ENSP00000444725.1:n.31-25533_31-25531delinsCCA
ENST00000544363.5:c.163_165delinsCCA	ENSP00000438035.1:p.Pro55=
NM_001029835.2:c.226_228delinsCCA , LRG_664t1:c.226_228delinsCCA	NP_001025006.1:p.Pro76=
NM_001167934.1:c.31-25533_31-25531delinsCCA	NP_001161406.1:n.31-25533_31-25531delinsCCA
NM_001167935.1:c.163_165delinsCCA	NP_001161407.1:p.Pro55=
NM_031443.3:c.163_165delinsCCA , LRG_664t2:c.163_165delinsCCA	NP_113631.1:p.Pro55=
NR_030770.1:n.245_247delinsCCA
XM_006715785.2:c.93+10588_93+10590delinsCCA	XP_006715848.1:n.93+10588_93+10590delinsCCA
XM_006715786.2:c.226_228delinsCCA	XP_006715849.1:p.Pro76=
XM_011515561.1:c.226_228delinsCCA	XP_011513863.1:p.Pro76=
XM_011515562.1:c.163_165delinsCCA	XP_011513864.1:p.Pro55=
XM_011515563.1:c.93+10588_93+10590delinsCCA	XP_011513865.1:n.93+10588_93+10590delinsCCA
XM_011515564.1:c.31-25533_31-25531delinsCCA	XP_011513866.1:n.31-25533_31-25531delinsCCA
XR_428088.2:n.239_241delinsCCA
NM_001363458.1:c.163_165delinsCCA	NP_001350387.1:p.Pro55=
NM_001363459.1:c.31-25533_31-25531delinsCCA	NP_001350388.1:n.31-25533_31-25531delinsCCA
XM_006715785.4:c.93+10588_93+10590delinsCCA	XP_006715848.1:n.93+10588_93+10590delinsCCA
XM_006715786.3:c.226_228delinsCCA	XP_006715849.1:p.Pro76=
XM_011515561.2:c.226_228delinsCCA	XP_011513863.1:p.Pro76=
XM_011515563.3:c.93+10588_93+10590delinsCCA	XP_011513865.1:n.93+10588_93+10590delinsCCA
XM_017012671.1:c.226_228delinsCCA	XP_016868160.1:p.Pro76=
XM_017012672.2:c.93+10588_93+10590delinsCCA	XP_016868161.1:n.93+10588_93+10590delinsCCA
XM_017012673.1:c.31-25533_31-25531delinsCCA	XP_016868162.1:n.31-25533_31-25531delinsCCA
XR_428088.3:n.259_261delinsCCA
NM_001363458.2:c.163_165delinsCCA	NP_001350387.1:p.Pro55=
NM_001363459.2:c.31-25533_31-25531delinsCCA	NP_001350388.1:n.31-25533_31-25531delinsCCA
NM_031443.4:c.163_165delinsCCA MANE Select	NP_113631.1:p.Pro55=
NR_030770.2:n.245_247delinsCCA
NM_001167934.2:c.31-25533_31-25531delinsCCA	NP_001161406.1:n.31-25533_31-25531delinsCCA
NM_001167935.2:c.163_165delinsCCA	NP_001161407.1:p.Pro55=