Canonical Allele Identifier: CA252397
Gene: CCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2684
dbSNP Id: rs137852842
gnomAD v4: 7-45000334-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45000334A>G , CM000669.2:g.45000334A>G GRCh38
NC_000007.13:g.45039933A>G , CM000669.1:g.45039933A>G GRCh37
NC_000007.12:g.45006458A>G NCBI36
NG_016295.1:g.5147A>G , LRG_664:g.5147A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000258781.11:c.1A>G MANE Select ENSP00000258781.7:p.Met1Val
ENST00000648329.1:c.1A>G ENSP00000496916.1:p.Met1Val
ENST00000258781.10:c.1A>G ENSP00000258781.6:p.Met1Val
ENST00000461377.5:n.383+477A>G
ENST00000478582.5:n.146A>G
ENST00000488727.5:c.1A>G ENSP00000417251.1:p.Met1Val
ENST00000541586.5:c.1A>G ENSP00000444725.1:p.Met1Val
ENST00000544363.5:c.1A>G ENSP00000438035.1:p.Met1Val
NM_001167934.1:c.1A>G NP_001161406.1:p.Met1Val
NM_001167935.1:c.1A>G NP_001161407.1:p.Met1Val
NM_031443.3:c.1A>G , LRG_664t2:c.1A>G NP_113631.1:p.Met1Val
NR_030770.1:n.112+477A>G
XM_011515562.1:c.1A>G XP_011513864.1:p.Met1Val
XM_011515564.1:c.1A>G XP_011513866.1:p.Met1Val
NM_001363458.1:c.1A>G NP_001350387.1:p.Met1Val
NM_001363459.1:c.1A>G NP_001350388.1:p.Met1Val
XM_017012673.1:c.1A>G XP_016868162.1:p.Met1Val
NM_001363458.2:c.1A>G NP_001350387.1:p.Met1Val
NM_001363459.2:c.1A>G NP_001350388.1:p.Met1Val
NM_031443.4:c.1A>G MANE Select NP_113631.1:p.Met1Val
NR_030770.2:n.112+477A>G
NM_001167934.2:c.1A>G NP_001161406.1:p.Met1Val
NM_001167935.2:c.1A>G NP_001161407.1:p.Met1Val