Canonical Allele Identifier: CA367431555

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075800A>T , CM000669.2:g.45075800A>T	GRCh38
NC_000007.13:g.45115399A>T , CM000669.1:g.45115399A>T	GRCh37
NC_000007.12:g.45081924A>T	NCBI36
NG_016295.1:g.80613A>T , LRG_664:g.80613A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.1078A>T MANE Select	NP_113631.1:p.Lys360Ter
ENST00000258781.11:c.1078A>T MANE Select	ENSP00000258781.7:p.Lys360Ter
NM_001029835.2:c.1141A>T , LRG_664t1:c.1141A>T	NP_001025006.1:p.Lys381Ter
NM_001167934.1:c.904A>T	NP_001161406.1:p.Lys302Ter
NM_001167934.2:c.904A>T	NP_001161406.1:p.Lys302Ter
NM_001167935.1:c.805A>T	NP_001161407.1:p.Lys269Ter
NM_001167935.2:c.805A>T	NP_001161407.1:p.Lys269Ter
NM_001363458.1:c.1201A>T	NP_001350387.1:p.Lys401Ter
NM_001363458.2:c.1201A>T	NP_001350387.1:p.Lys401Ter
NM_001363459.1:c.1027A>T	NP_001350388.1:p.Lys343Ter
NM_001363459.2:c.1027A>T	NP_001350388.1:p.Lys343Ter
NM_031443.3:c.1078A>T , LRG_664t2:c.1078A>T	NP_113631.1:p.Lys360Ter
NR_030770.1:n.1160A>T
NR_030770.2:n.1160A>T
ENST00000258781.10:c.1078A>T	ENSP00000258781.6:p.Lys360Ter
ENST00000381112.7:c.1141A>T	ENSP00000370503.3:p.Lys381Ter
ENST00000461377.5:n.1431A>T
ENST00000474617.1:c.787A>T	ENSP00000419474.1:p.Lys263Ter
ENST00000475551.5:c.1060A>T	ENSP00000417180.1:p.Lys354Ter
ENST00000477605.1:n.1413A>T
ENST00000481194.1:n.4651A>T
ENST00000488727.5:c.*204A>T	ENSP00000417251.1:n.*204A>T
ENST00000541586.5:c.904A>T	ENSP00000444725.1:p.Lys302Ter
ENST00000544363.5:c.805A>T	ENSP00000438035.1:p.Lys269Ter
ENST00000648329.1:c.*1866A>T	ENSP00000496916.1:n.*1866A>T
XM_006715785.2:c.967A>T	XP_006715848.1:p.Lys323Ter
XM_006715785.4:c.967A>T	XP_006715848.1:p.Lys323Ter
XM_006715786.2:c.868A>T	XP_006715849.1:p.Lys290Ter
XM_006715786.3:c.868A>T	XP_006715849.1:p.Lys290Ter
XM_011515561.1:c.1264A>T	XP_011513863.1:p.Lys422Ter
XM_011515561.2:c.1264A>T	XP_011513863.1:p.Lys422Ter
XM_011515562.1:c.1201A>T	XP_011513864.1:p.Lys401Ter
XM_011515563.1:c.1090A>T	XP_011513865.1:p.Lys364Ter
XM_011515563.3:c.1090A>T	XP_011513865.1:p.Lys364Ter
XM_011515564.1:c.1027A>T	XP_011513866.1:p.Lys343Ter
XR_428088.2:n.1096A>T
XR_428088.3:n.1116A>T