Canonical Allele Identifier: CA1704042074

Gene: CCM2

Linked Data

• ClinVar Variation Id: 952312
• ClinVar RCV Id: RCV001224396
• dbSNP Id: rs1797324598

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038352_45038353del , CM000669.2:g.45038352_45038353del	GRCh38
NC_000007.13:g.45077951_45077952del , CM000669.1:g.45077951_45077952del	GRCh37
NC_000007.12:g.45044476_45044477del	NCBI36
NG_016295.1:g.43165_43166del , LRG_664:g.43165_43166del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.130_131del MANE Select	ENSP00000258781.7:p.Thr44CysfsTer7
ENST00000648329.1:c.130_131del	ENSP00000496916.1:p.Thr44CysfsTer7
ENST00000258781.10:c.130_131del	ENSP00000258781.6:p.Thr44CysfsTer7
ENST00000381112.7:c.193_194del	ENSP00000370503.3:p.Thr65CysfsTer7
ENST00000461377.5:n.483_484del
ENST00000472223.5:n.197_198del
ENST00000474617.1:c.112_113del	ENSP00000419474.1:p.Thr38CysfsTer7
ENST00000475551.5:c.112_113del	ENSP00000417180.1:p.Thr38CysfsTer7
ENST00000476594.1:n.92_93del
ENST00000478169.5:n.352_353del
ENST00000478582.5:n.341_342del
ENST00000480658.5:n.226_227del
ENST00000482714.5:n.126+10555_126+10556del
ENST00000488727.5:c.130_131del	ENSP00000417251.1:p.Thr44CysfsTer7
ENST00000492883.5:n.226_227del
ENST00000541586.5:c.31-25566_31-25565del	ENSP00000444725.1:n.31-25566_31-25565del
ENST00000544363.5:c.130_131del	ENSP00000438035.1:p.Thr44CysfsTer7
NM_001029835.2:c.193_194del , LRG_664t1:c.193_194del	NP_001025006.1:p.Thr65CysfsTer7
NM_001167934.1:c.31-25566_31-25565del	NP_001161406.1:n.31-25566_31-25565del
NM_001167935.1:c.130_131del	NP_001161407.1:p.Thr44CysfsTer7
NM_031443.3:c.130_131del , LRG_664t2:c.130_131del	NP_113631.1:p.Thr44CysfsTer7
NR_030770.1:n.212_213del
XM_006715785.2:c.93+10555_93+10556del	XP_006715848.1:n.93+10555_93+10556del
XM_006715786.2:c.193_194del	XP_006715849.1:p.Thr65CysfsTer7
XM_011515561.1:c.193_194del	XP_011513863.1:p.Thr65CysfsTer7
XM_011515562.1:c.130_131del	XP_011513864.1:p.Thr44CysfsTer7
XM_011515563.1:c.93+10555_93+10556del	XP_011513865.1:n.93+10555_93+10556del
XM_011515564.1:c.31-25566_31-25565del	XP_011513866.1:n.31-25566_31-25565del
XR_428088.2:n.206_207del
NM_001363458.1:c.130_131del	NP_001350387.1:p.Thr44CysfsTer7
NM_001363459.1:c.31-25566_31-25565del	NP_001350388.1:n.31-25566_31-25565del
XM_006715785.4:c.93+10555_93+10556del	XP_006715848.1:n.93+10555_93+10556del
XM_006715786.3:c.193_194del	XP_006715849.1:p.Thr65CysfsTer7
XM_011515561.2:c.193_194del	XP_011513863.1:p.Thr65CysfsTer7
XM_011515563.3:c.93+10555_93+10556del	XP_011513865.1:n.93+10555_93+10556del
XM_017012671.1:c.193_194del	XP_016868160.1:p.Thr65CysfsTer7
XM_017012672.2:c.93+10555_93+10556del	XP_016868161.1:n.93+10555_93+10556del
XM_017012673.1:c.31-25566_31-25565del	XP_016868162.1:n.31-25566_31-25565del
XR_428088.3:n.226_227del
NM_001363458.2:c.130_131del	NP_001350387.1:p.Thr44CysfsTer7
NM_001363459.2:c.31-25566_31-25565del	NP_001350388.1:n.31-25566_31-25565del
NM_031443.4:c.130_131del MANE Select	NP_113631.1:p.Thr44CysfsTer7
NR_030770.2:n.212_213del
NM_001167934.2:c.31-25566_31-25565del	NP_001161406.1:n.31-25566_31-25565del
NM_001167935.2:c.130_131del	NP_001161407.1:p.Thr44CysfsTer7