Canonical Allele Identifier: CA4246869
Gene: CCM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447028
dbSNP Id: rs755800734
gnomAD v2: 7-45077876-C-T
gnomAD v3: 7-45038277-C-T
gnomAD v4: 7-45038277-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45038277C>T , CM000669.2:g.45038277C>T GRCh38
NC_000007.13:g.45077876C>T , CM000669.1:g.45077876C>T GRCh37
NC_000007.12:g.45044401C>T NCBI36
NG_016295.1:g.43090C>T , LRG_664:g.43090C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000258781.11:c.55C>T MANE Select ENSP00000258781.7:p.Arg19Ter
ENST00000648329.1:c.55C>T ENSP00000496916.1:p.Arg19Ter
ENST00000258781.10:c.55C>T ENSP00000258781.6:p.Arg19Ter
ENST00000381112.7:c.118C>T ENSP00000370503.3:p.Arg40Ter
ENST00000461377.5:n.408C>T
ENST00000472223.5:n.122C>T
ENST00000474617.1:c.37C>T ENSP00000419474.1:p.Arg13Ter
ENST00000475551.5:c.37C>T ENSP00000417180.1:p.Arg13Ter
ENST00000476594.1:n.17C>T
ENST00000478169.5:n.277C>T
ENST00000478582.5:n.266C>T
ENST00000480658.5:n.151C>T
ENST00000482714.5:n.126+10480C>T
ENST00000488727.5:c.55C>T ENSP00000417251.1:p.Arg19Ter
ENST00000492883.5:n.151C>T
ENST00000541586.5:c.31-25641C>T ENSP00000444725.1:n.31-25641C>T
ENST00000544363.5:c.55C>T ENSP00000438035.1:p.Arg19Ter
NM_001029835.2:c.118C>T , LRG_664t1:c.118C>T NP_001025006.1:p.Arg40Ter
NM_001167934.1:c.31-25641C>T NP_001161406.1:n.31-25641C>T
NM_001167935.1:c.55C>T NP_001161407.1:p.Arg19Ter
NM_031443.3:c.55C>T , LRG_664t2:c.55C>T NP_113631.1:p.Arg19Ter
NR_030770.1:n.137C>T
XM_006715785.2:c.93+10480C>T XP_006715848.1:n.93+10480C>T
XM_006715786.2:c.118C>T XP_006715849.1:p.Arg40Ter
XM_011515561.1:c.118C>T XP_011513863.1:p.Arg40Ter
XM_011515562.1:c.55C>T XP_011513864.1:p.Arg19Ter
XM_011515563.1:c.93+10480C>T XP_011513865.1:n.93+10480C>T
XM_011515564.1:c.31-25641C>T XP_011513866.1:n.31-25641C>T
XR_428088.2:n.131C>T
NM_001363458.1:c.55C>T NP_001350387.1:p.Arg19Ter
NM_001363459.1:c.31-25641C>T NP_001350388.1:n.31-25641C>T
XM_006715785.4:c.93+10480C>T XP_006715848.1:n.93+10480C>T
XM_006715786.3:c.118C>T XP_006715849.1:p.Arg40Ter
XM_011515561.2:c.118C>T XP_011513863.1:p.Arg40Ter
XM_011515563.3:c.93+10480C>T XP_011513865.1:n.93+10480C>T
XM_017012671.1:c.118C>T XP_016868160.1:p.Arg40Ter
XM_017012672.2:c.93+10480C>T XP_016868161.1:n.93+10480C>T
XM_017012673.1:c.31-25641C>T XP_016868162.1:n.31-25641C>T
XR_428088.3:n.151C>T
NM_001363458.2:c.55C>T NP_001350387.1:p.Arg19Ter
NM_001363459.2:c.31-25641C>T NP_001350388.1:n.31-25641C>T
NM_031443.4:c.55C>T MANE Select NP_113631.1:p.Arg19Ter
NR_030770.2:n.137C>T
NM_001167934.2:c.31-25641C>T NP_001161406.1:n.31-25641C>T
NM_001167935.2:c.55C>T NP_001161407.1:p.Arg19Ter