Canonical Allele Identifier: CA4247056

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45069881C>T , CM000669.2:g.45069881C>T	GRCh38
NC_000007.13:g.45109480C>T , CM000669.1:g.45109480C>T	GRCh37
NC_000007.12:g.45076005C>T	NCBI36
NG_016295.1:g.74694C>T , LRG_664:g.74694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.665C>T MANE Select	ENSP00000258781.7:p.Thr222Met
ENST00000648329.1:c.665C>T	ENSP00000496916.1:p.Thr222Met
ENST00000258781.10:c.665C>T	ENSP00000258781.6:p.Thr222Met
ENST00000381112.7:c.728C>T	ENSP00000370503.3:p.Thr243Met
ENST00000461377.5:n.1018C>T
ENST00000472223.5:n.732C>T
ENST00000474617.1:c.455-2845C>T	ENSP00000419474.1:n.455-2845C>T
ENST00000475551.5:c.647C>T	ENSP00000417180.1:p.Thr216Met
ENST00000477605.1:n.1000C>T
ENST00000478582.5:n.739C>T
ENST00000480382.1:c.142C>T
ENST00000480658.5:n.493C>T
ENST00000481194.1:n.100C>T
ENST00000482714.5:n.587C>T
ENST00000488727.5:c.665C>T	ENSP00000417251.1:p.Thr222Met
ENST00000492883.5:n.540C>T
ENST00000541586.5:c.491C>T	ENSP00000444725.1:p.Thr164Met
ENST00000544363.5:c.473-2845C>T	ENSP00000438035.1:n.473-2845C>T
NM_001029835.2:c.728C>T , LRG_664t1:c.728C>T	NP_001025006.1:p.Thr243Met
NM_001167934.1:c.491C>T	NP_001161406.1:p.Thr164Met
NM_001167935.1:c.473-2845C>T	NP_001161407.1:n.473-2845C>T
NM_031443.3:c.665C>T , LRG_664t2:c.665C>T	NP_113631.1:p.Thr222Met
NR_030770.1:n.747C>T
XM_006715785.2:c.554C>T	XP_006715848.1:p.Thr185Met
XM_006715786.2:c.536-2845C>T	XP_006715849.1:n.536-2845C>T
XM_011515561.1:c.728C>T	XP_011513863.1:p.Thr243Met
XM_011515562.1:c.665C>T	XP_011513864.1:p.Thr222Met
XM_011515563.1:c.554C>T	XP_011513865.1:p.Thr185Met
XM_011515564.1:c.491C>T	XP_011513866.1:p.Thr164Met
XR_428088.2:n.741C>T
NM_001363458.1:c.665C>T	NP_001350387.1:p.Thr222Met
NM_001363459.1:c.491C>T	NP_001350388.1:p.Thr164Met
XM_006715785.4:c.554C>T	XP_006715848.1:p.Thr185Met
XM_006715786.3:c.536-2845C>T	XP_006715849.1:n.536-2845C>T
XM_011515561.2:c.728C>T	XP_011513863.1:p.Thr243Met
XM_011515563.3:c.554C>T	XP_011513865.1:p.Thr185Met
XM_017012671.1:c.728C>T	XP_016868160.1:p.Thr243Met
XM_017012672.2:c.554C>T	XP_016868161.1:p.Thr185Met
XM_017012673.1:c.491C>T	XP_016868162.1:p.Thr164Met
XR_428088.3:n.761C>T
NM_001363458.2:c.665C>T	NP_001350387.1:p.Thr222Met
NM_001363459.2:c.491C>T	NP_001350388.1:p.Thr164Met
NM_031443.4:c.665C>T MANE Select	NP_113631.1:p.Thr222Met
NR_030770.2:n.747C>T
NM_001167934.2:c.491C>T	NP_001161406.1:p.Thr164Met
NM_001167935.2:c.473-2845C>T	NP_001161407.1:n.473-2845C>T