Canonical Allele Identifier: CA2682672926
Gene: CCM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45000382_45000383insATATGGAAGAGGAGGGCAAGAAGGGCAAG , CM000669.2:g.45000382_45000383insATATGGAAGAGGAGGGCAAGAAGGGCAAG GRCh38
NC_000007.13:g.45039981_45039982insATATGGAAGAGGAGGGCAAGAAGGGCAAG , CM000669.1:g.45039981_45039982insATATGGAAGAGGAGGGCAAGAAGGGCAAG GRCh37
NC_000007.12:g.45006506_45006507insATATGGAAGAGGAGGGCAAGAAGGGCAAG NCBI36
NG_016295.1:g.5195_5196insATATGGAAGAGGAGGGCAAGAAGGGCAAG , LRG_664:g.5195_5196insATATGGAAGAGGAGGGCAAGAAGGGCAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000258781.11:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG MANE Select ENSP00000258781.7:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCA...
ENST00000648329.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG ENSP00000496916.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCA...
ENST00000258781.10:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG ENSP00000258781.6:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCA...
ENST00000461377.5:n.383+525_383+526insATATGGAAGAGGAGGGCAAGAAGGGCAAG
ENST00000478582.5:n.175+19_175+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
ENST00000488727.5:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG ENSP00000417251.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCA...
ENST00000541586.5:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG ENSP00000444725.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCA...
ENST00000544363.5:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG ENSP00000438035.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCA...
NM_001167934.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001161406.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001167935.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001161407.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_031443.3:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG , LRG_664t2:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_113631.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NR_030770.1:n.112+525_112+526insATATGGAAGAGGAGGGCAAGAAGGGCAAG
XM_011515562.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG XP_011513864.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
XM_011515564.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG XP_011513866.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001363458.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001350387.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001363459.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001350388.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
XM_017012673.1:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG XP_016868162.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001363458.2:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001350387.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001363459.2:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001350388.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_031443.4:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG MANE Select NP_113631.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NR_030770.2:n.112+525_112+526insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001167934.2:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001161406.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG
NM_001167935.2:c.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG NP_001161407.1:n.30+19_30+20insATATGGAAGAGGAGGGCAAGAAGGGCAAG