Canonical Allele Identifier: CA367431013

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45073495C>G , CM000669.2:g.45073495C>G	GRCh38
NC_000007.13:g.45113094C>G , CM000669.1:g.45113094C>G	GRCh37
NC_000007.12:g.45079619C>G	NCBI36
NG_016295.1:g.78308C>G , LRG_664:g.78308C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.839C>G MANE Select	NP_113631.1:p.Ser280Ter
ENST00000258781.11:c.839C>G MANE Select	ENSP00000258781.7:p.Ser280Ter
NM_001029835.2:c.902C>G , LRG_664t1:c.902C>G	NP_001025006.1:p.Ser301Ter
NM_001167934.1:c.665C>G	NP_001161406.1:p.Ser222Ter
NM_001167934.2:c.665C>G	NP_001161406.1:p.Ser222Ter
NM_001167935.1:c.566C>G	NP_001161407.1:p.Ser189Ter
NM_001167935.2:c.566C>G	NP_001161407.1:p.Ser189Ter
NM_001363458.1:c.962C>G	NP_001350387.1:p.Ser321Ter
NM_001363458.2:c.962C>G	NP_001350387.1:p.Ser321Ter
NM_001363459.1:c.788C>G	NP_001350388.1:p.Ser263Ter
NM_001363459.2:c.788C>G	NP_001350388.1:p.Ser263Ter
NM_031443.3:c.839C>G , LRG_664t2:c.839C>G	NP_113631.1:p.Ser280Ter
NR_030770.1:n.921C>G
NR_030770.2:n.921C>G
ENST00000258781.10:c.839C>G	ENSP00000258781.6:p.Ser280Ter
ENST00000381112.7:c.902C>G	ENSP00000370503.3:p.Ser301Ter
ENST00000461377.5:n.1192C>G
ENST00000470837.1:n.482C>G
ENST00000474617.1:c.548C>G	ENSP00000419474.1:p.Ser183Ter
ENST00000475551.5:c.821C>G	ENSP00000417180.1:p.Ser274Ter
ENST00000477605.1:n.1174C>G
ENST00000478582.5:n.913C>G
ENST00000481194.1:n.3714C>G
ENST00000488727.5:c.781C>G	ENSP00000417251.1:p.His261Asp
ENST00000541586.5:c.665C>G	ENSP00000444725.1:p.Ser222Ter
ENST00000544363.5:c.566C>G	ENSP00000438035.1:p.Ser189Ter
ENST00000648329.1:c.*1627C>G	ENSP00000496916.1:n.*1627C>G
XM_006715785.2:c.728C>G	XP_006715848.1:p.Ser243Ter
XM_006715785.4:c.728C>G	XP_006715848.1:p.Ser243Ter
XM_006715786.2:c.629C>G	XP_006715849.1:p.Ser210Ter
XM_006715786.3:c.629C>G	XP_006715849.1:p.Ser210Ter
XM_011515561.1:c.1025C>G	XP_011513863.1:p.Ser342Ter
XM_011515561.2:c.1025C>G	XP_011513863.1:p.Ser342Ter
XM_011515562.1:c.962C>G	XP_011513864.1:p.Ser321Ter
XM_011515563.1:c.851C>G	XP_011513865.1:p.Ser284Ter
XM_011515563.3:c.851C>G	XP_011513865.1:p.Ser284Ter
XM_011515564.1:c.788C>G	XP_011513866.1:p.Ser263Ter
XR_428088.2:n.857C>G
XR_428088.3:n.877C>G