Canonical Allele Identifier: CA4247287

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075939C>T , CM000669.2:g.45075939C>T	GRCh38
NC_000007.13:g.45115538C>T , CM000669.1:g.45115538C>T	GRCh37
NC_000007.12:g.45082063C>T	NCBI36
NG_016295.1:g.80752C>T , LRG_664:g.80752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.1217C>T MANE Select	ENSP00000258781.7:p.Thr406Met
ENST00000648329.1:c.*2005C>T	ENSP00000496916.1:n.*2005C>T
ENST00000258781.10:c.1217C>T	ENSP00000258781.6:p.Thr406Met
ENST00000381112.7:c.1280C>T	ENSP00000370503.3:p.Thr427Met
ENST00000461377.5:n.1570C>T
ENST00000474617.1:c.926C>T	ENSP00000419474.1:p.Thr309Met
ENST00000475551.5:c.1199C>T	ENSP00000417180.1:p.Thr400Met
ENST00000477605.1:n.1552C>T
ENST00000481194.1:n.4790C>T
ENST00000488727.5:c.*343C>T	ENSP00000417251.1:n.*343C>T
ENST00000541586.5:c.1043C>T	ENSP00000444725.1:p.Thr348Met
ENST00000544363.5:c.944C>T	ENSP00000438035.1:p.Thr315Met
NM_001029835.2:c.1280C>T , LRG_664t1:c.1280C>T	NP_001025006.1:p.Thr427Met
NM_001167934.1:c.1043C>T	NP_001161406.1:p.Thr348Met
NM_001167935.1:c.944C>T	NP_001161407.1:p.Thr315Met
NM_031443.3:c.1217C>T , LRG_664t2:c.1217C>T	NP_113631.1:p.Thr406Met
NR_030770.1:n.1299C>T
XM_006715785.2:c.1106C>T	XP_006715848.1:p.Thr369Met
XM_006715786.2:c.1007C>T	XP_006715849.1:p.Thr336Met
XM_011515561.1:c.1403C>T	XP_011513863.1:p.Thr468Met
XM_011515562.1:c.1340C>T	XP_011513864.1:p.Thr447Met
XM_011515563.1:c.1229C>T	XP_011513865.1:p.Thr410Met
XM_011515564.1:c.1166C>T	XP_011513866.1:p.Thr389Met
XR_428088.2:n.1235C>T
NM_001363458.1:c.1340C>T	NP_001350387.1:p.Thr447Met
NM_001363459.1:c.1166C>T	NP_001350388.1:p.Thr389Met
XM_006715785.4:c.1106C>T	XP_006715848.1:p.Thr369Met
XM_006715786.3:c.1007C>T	XP_006715849.1:p.Thr336Met
XM_011515561.2:c.1403C>T	XP_011513863.1:p.Thr468Met
XM_011515563.3:c.1229C>T	XP_011513865.1:p.Thr410Met
XR_428088.3:n.1255C>T
NM_001363458.2:c.1340C>T	NP_001350387.1:p.Thr447Met
NM_001363459.2:c.1166C>T	NP_001350388.1:p.Thr389Met
NM_031443.4:c.1217C>T MANE Select	NP_113631.1:p.Thr406Met
NR_030770.2:n.1299C>T
NM_001167934.2:c.1043C>T	NP_001161406.1:p.Thr348Met
NM_001167935.2:c.944C>T	NP_001161407.1:p.Thr315Met