Canonical Allele Identifier: CA367431309
Community Standard Title: NM_031443.4(CCM2):c.970G>T (p.Glu324Ter)
Gene: CCM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45074324G>T , CM000669.2:g.45074324G>T GRCh38
NC_000007.13:g.45113923G>T , CM000669.1:g.45113923G>T GRCh37
NC_000007.12:g.45080448G>T NCBI36
NG_016295.1:g.79137G>T , LRG_664:g.79137G>T

Transcript Alleles

HGVS Amino-acid Change
NM_031443.4:c.970G>T MANE Select NP_113631.1:p.Glu324Ter
ENST00000258781.11:c.970G>T MANE Select ENSP00000258781.7:p.Glu324Ter
NM_001029835.2:c.1033G>T , LRG_664t1:c.1033G>T NP_001025006.1:p.Glu345Ter
NM_001167934.1:c.796G>T NP_001161406.1:p.Glu266Ter
NM_001167934.2:c.796G>T NP_001161406.1:p.Glu266Ter
NM_001167935.1:c.697G>T NP_001161407.1:p.Glu233Ter
NM_001167935.2:c.697G>T NP_001161407.1:p.Glu233Ter
NM_001363458.1:c.1093G>T NP_001350387.1:p.Glu365Ter
NM_001363458.2:c.1093G>T NP_001350387.1:p.Glu365Ter
NM_001363459.1:c.919G>T NP_001350388.1:p.Glu307Ter
NM_001363459.2:c.919G>T NP_001350388.1:p.Glu307Ter
NM_031443.3:c.970G>T , LRG_664t2:c.970G>T NP_113631.1:p.Glu324Ter
NR_030770.1:n.1052G>T
NR_030770.2:n.1052G>T
ENST00000258781.10:c.970G>T ENSP00000258781.6:p.Glu324Ter
ENST00000381112.7:c.1033G>T ENSP00000370503.3:p.Glu345Ter
ENST00000461377.5:n.1323G>T
ENST00000474617.1:c.679G>T ENSP00000419474.1:p.Glu227Ter
ENST00000475551.5:c.952G>T ENSP00000417180.1:p.Glu318Ter
ENST00000477605.1:n.1305G>T
ENST00000481194.1:n.4543G>T
ENST00000488727.5:c.*96G>T ENSP00000417251.1:n.*96G>T
ENST00000541586.5:c.796G>T ENSP00000444725.1:p.Glu266Ter
ENST00000544363.5:c.697G>T ENSP00000438035.1:p.Glu233Ter
ENST00000648329.1:c.*1758G>T ENSP00000496916.1:n.*1758G>T
XM_006715785.2:c.859G>T XP_006715848.1:p.Glu287Ter
XM_006715785.4:c.859G>T XP_006715848.1:p.Glu287Ter
XM_006715786.2:c.760G>T XP_006715849.1:p.Glu254Ter
XM_006715786.3:c.760G>T XP_006715849.1:p.Glu254Ter
XM_011515561.1:c.1156G>T XP_011513863.1:p.Glu386Ter
XM_011515561.2:c.1156G>T XP_011513863.1:p.Glu386Ter
XM_011515562.1:c.1093G>T XP_011513864.1:p.Glu365Ter
XM_011515563.1:c.982G>T XP_011513865.1:p.Glu328Ter
XM_011515563.3:c.982G>T XP_011513865.1:p.Glu328Ter
XM_011515564.1:c.919G>T XP_011513866.1:p.Glu307Ter
XR_428088.2:n.988G>T
XR_428088.3:n.1008G>T