Canonical Allele Identifier: CA367431325

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45074330C>T , CM000669.2:g.45074330C>T	GRCh38
NC_000007.13:g.45113929C>T , CM000669.1:g.45113929C>T	GRCh37
NC_000007.12:g.45080454C>T	NCBI36
NG_016295.1:g.79143C>T , LRG_664:g.79143C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.976C>T MANE Select	ENSP00000258781.7:p.Arg326Cys
ENST00000648329.1:c.*1764C>T	ENSP00000496916.1:n.*1764C>T
ENST00000258781.10:c.976C>T	ENSP00000258781.6:p.Arg326Cys
ENST00000381112.7:c.1039C>T	ENSP00000370503.3:p.Arg347Cys
ENST00000461377.5:n.1329C>T
ENST00000474617.1:c.685C>T	ENSP00000419474.1:p.Arg229Cys
ENST00000475551.5:c.958C>T	ENSP00000417180.1:p.Arg320Cys
ENST00000477605.1:n.1311C>T
ENST00000481194.1:n.4549C>T
ENST00000488727.5:c.*102C>T	ENSP00000417251.1:n.*102C>T
ENST00000541586.5:c.802C>T	ENSP00000444725.1:p.Arg268Cys
ENST00000544363.5:c.703C>T	ENSP00000438035.1:p.Arg235Cys
NM_001029835.2:c.1039C>T , LRG_664t1:c.1039C>T	NP_001025006.1:p.Arg347Cys
NM_001167934.1:c.802C>T	NP_001161406.1:p.Arg268Cys
NM_001167935.1:c.703C>T	NP_001161407.1:p.Arg235Cys
NM_031443.3:c.976C>T , LRG_664t2:c.976C>T	NP_113631.1:p.Arg326Cys
NR_030770.1:n.1058C>T
XM_006715785.2:c.865C>T	XP_006715848.1:p.Arg289Cys
XM_006715786.2:c.766C>T	XP_006715849.1:p.Arg256Cys
XM_011515561.1:c.1162C>T	XP_011513863.1:p.Arg388Cys
XM_011515562.1:c.1099C>T	XP_011513864.1:p.Arg367Cys
XM_011515563.1:c.988C>T	XP_011513865.1:p.Arg330Cys
XM_011515564.1:c.925C>T	XP_011513866.1:p.Arg309Cys
XR_428088.2:n.994C>T
NM_001363458.1:c.1099C>T	NP_001350387.1:p.Arg367Cys
NM_001363459.1:c.925C>T	NP_001350388.1:p.Arg309Cys
XM_006715785.4:c.865C>T	XP_006715848.1:p.Arg289Cys
XM_006715786.3:c.766C>T	XP_006715849.1:p.Arg256Cys
XM_011515561.2:c.1162C>T	XP_011513863.1:p.Arg388Cys
XM_011515563.3:c.988C>T	XP_011513865.1:p.Arg330Cys
XR_428088.3:n.1014C>T
NM_001363458.2:c.1099C>T	NP_001350387.1:p.Arg367Cys
NM_001363459.2:c.925C>T	NP_001350388.1:p.Arg309Cys
NM_031443.4:c.976C>T MANE Select	NP_113631.1:p.Arg326Cys
NR_030770.2:n.1058C>T
NM_001167934.2:c.802C>T	NP_001161406.1:p.Arg268Cys
NM_001167935.2:c.703C>T	NP_001161407.1:p.Arg235Cys