Canonical Allele Identifier: CA891862757

Gene: CCM2

Linked Data

• ClinVar Variation Id: 590648
• ClinVar RCV Id: RCV000721771
• dbSNP Id: rs1562881980
• MyVariant Identifiers: chr7:g.45077955_45077956del (hg19) ; chr7:g.45038356_45038357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038356_45038357del , CM000669.2:g.45038356_45038357del	GRCh38
NC_000007.13:g.45077955_45077956del , CM000669.1:g.45077955_45077956del	GRCh37
NC_000007.12:g.45044480_45044481del	NCBI36
NG_016295.1:g.43169_43170del , LRG_664:g.43169_43170del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.134_135del MANE Select	ENSP00000258781.7:p.Val45GlyfsTer6
ENST00000648329.1:c.134_135del	ENSP00000496916.1:p.Val45GlyfsTer6
ENST00000258781.10:c.134_135del	ENSP00000258781.6:p.Val45GlyfsTer6
ENST00000381112.7:c.197_198del	ENSP00000370503.3:p.Val66GlyfsTer6
ENST00000461377.5:n.487_488del
ENST00000472223.5:n.201_202del
ENST00000474617.1:c.116_117del	ENSP00000419474.1:p.Val39GlyfsTer6
ENST00000475551.5:c.116_117del	ENSP00000417180.1:p.Val39GlyfsTer6
ENST00000476594.1:n.96_97del
ENST00000478169.5:n.356_357del
ENST00000478582.5:n.345_346del
ENST00000480658.5:n.230_231del
ENST00000482714.5:n.126+10559_126+10560del
ENST00000488727.5:c.134_135del	ENSP00000417251.1:p.Val45GlyfsTer6
ENST00000492883.5:n.230_231del
ENST00000541586.5:c.31-25562_31-25561del	ENSP00000444725.1:n.31-25562_31-25561del
ENST00000544363.5:c.134_135del	ENSP00000438035.1:p.Val45GlyfsTer6
NM_001029835.2:c.197_198del , LRG_664t1:c.197_198del	NP_001025006.1:p.Val66GlyfsTer6
NM_001167934.1:c.31-25562_31-25561del	NP_001161406.1:n.31-25562_31-25561del
NM_001167935.1:c.134_135del	NP_001161407.1:p.Val45GlyfsTer6
NM_031443.3:c.134_135del , LRG_664t2:c.134_135del	NP_113631.1:p.Val45GlyfsTer6
NR_030770.1:n.216_217del
XM_006715785.2:c.93+10559_93+10560del	XP_006715848.1:n.93+10559_93+10560del
XM_006715786.2:c.197_198del	XP_006715849.1:p.Val66GlyfsTer6
XM_011515561.1:c.197_198del	XP_011513863.1:p.Val66GlyfsTer6
XM_011515562.1:c.134_135del	XP_011513864.1:p.Val45GlyfsTer6
XM_011515563.1:c.93+10559_93+10560del	XP_011513865.1:n.93+10559_93+10560del
XM_011515564.1:c.31-25562_31-25561del	XP_011513866.1:n.31-25562_31-25561del
XR_428088.2:n.210_211del
NM_001363458.1:c.134_135del	NP_001350387.1:p.Val45GlyfsTer6
NM_001363459.1:c.31-25562_31-25561del	NP_001350388.1:n.31-25562_31-25561del
XM_006715785.4:c.93+10559_93+10560del	XP_006715848.1:n.93+10559_93+10560del
XM_006715786.3:c.197_198del	XP_006715849.1:p.Val66GlyfsTer6
XM_011515561.2:c.197_198del	XP_011513863.1:p.Val66GlyfsTer6
XM_011515563.3:c.93+10559_93+10560del	XP_011513865.1:n.93+10559_93+10560del
XM_017012671.1:c.197_198del	XP_016868160.1:p.Val66GlyfsTer6
XM_017012672.2:c.93+10559_93+10560del	XP_016868161.1:n.93+10559_93+10560del
XM_017012673.1:c.31-25562_31-25561del	XP_016868162.1:n.31-25562_31-25561del
XR_428088.3:n.230_231del
NM_001363458.2:c.134_135del	NP_001350387.1:p.Val45GlyfsTer6
NM_001363459.2:c.31-25562_31-25561del	NP_001350388.1:n.31-25562_31-25561del
NM_031443.4:c.134_135del MANE Select	NP_113631.1:p.Val45GlyfsTer6
NR_030770.2:n.216_217del
NM_001167934.2:c.31-25562_31-25561del	NP_001161406.1:n.31-25562_31-25561del
NM_001167935.2:c.134_135del	NP_001161407.1:p.Val45GlyfsTer6