Canonical Allele Identifier: CA4247260

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075813A>G , CM000669.2:g.45075813A>G	GRCh38
NC_000007.13:g.45115412A>G , CM000669.1:g.45115412A>G	GRCh37
NC_000007.12:g.45081937A>G	NCBI36
NG_016295.1:g.80626A>G , LRG_664:g.80626A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.1091A>G MANE Select	ENSP00000258781.7:p.His364Arg
ENST00000648329.1:c.*1879A>G	ENSP00000496916.1:n.*1879A>G
ENST00000258781.10:c.1091A>G	ENSP00000258781.6:p.His364Arg
ENST00000381112.7:c.1154A>G	ENSP00000370503.3:p.His385Arg
ENST00000461377.5:n.1444A>G
ENST00000474617.1:c.800A>G	ENSP00000419474.1:p.His267Arg
ENST00000475551.5:c.1073A>G	ENSP00000417180.1:p.His358Arg
ENST00000477605.1:n.1426A>G
ENST00000481194.1:n.4664A>G
ENST00000488727.5:c.*217A>G	ENSP00000417251.1:n.*217A>G
ENST00000541586.5:c.917A>G	ENSP00000444725.1:p.His306Arg
ENST00000544363.5:c.818A>G	ENSP00000438035.1:p.His273Arg
NM_001029835.2:c.1154A>G , LRG_664t1:c.1154A>G	NP_001025006.1:p.His385Arg
NM_001167934.1:c.917A>G	NP_001161406.1:p.His306Arg
NM_001167935.1:c.818A>G	NP_001161407.1:p.His273Arg
NM_031443.3:c.1091A>G , LRG_664t2:c.1091A>G	NP_113631.1:p.His364Arg
NR_030770.1:n.1173A>G
XM_006715785.2:c.980A>G	XP_006715848.1:p.His327Arg
XM_006715786.2:c.881A>G	XP_006715849.1:p.His294Arg
XM_011515561.1:c.1277A>G	XP_011513863.1:p.His426Arg
XM_011515562.1:c.1214A>G	XP_011513864.1:p.His405Arg
XM_011515563.1:c.1103A>G	XP_011513865.1:p.His368Arg
XM_011515564.1:c.1040A>G	XP_011513866.1:p.His347Arg
XR_428088.2:n.1109A>G
NM_001363458.1:c.1214A>G	NP_001350387.1:p.His405Arg
NM_001363459.1:c.1040A>G	NP_001350388.1:p.His347Arg
XM_006715785.4:c.980A>G	XP_006715848.1:p.His327Arg
XM_006715786.3:c.881A>G	XP_006715849.1:p.His294Arg
XM_011515561.2:c.1277A>G	XP_011513863.1:p.His426Arg
XM_011515563.3:c.1103A>G	XP_011513865.1:p.His368Arg
XR_428088.3:n.1129A>G
NM_001363458.2:c.1214A>G	NP_001350387.1:p.His405Arg
NM_001363459.2:c.1040A>G	NP_001350388.1:p.His347Arg
NM_031443.4:c.1091A>G MANE Select	NP_113631.1:p.His364Arg
NR_030770.2:n.1173A>G
NM_001167934.2:c.917A>G	NP_001161406.1:p.His306Arg
NM_001167935.2:c.818A>G	NP_001161407.1:p.His273Arg