Canonical Allele Identifier: CA4247240

Gene: CCM2

Linked Data

• ClinVar Variation Id: 261964
• ClinVar RCV Id: RCV000243460 ; RCV000514711 ; RCV002058366
• dbSNP Id: rs190686229
• ExAC: 7:45114019 C / T
• gnomAD v2: 7-45114019-C-T
• gnomAD v3: 7-45074420-C-T
• gnomAD v4: 7-45074420-C-T
• MyVariant Identifiers: chr7:g.45114019C>T (hg19) ; chr7:g.45074420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45074420C>T , CM000669.2:g.45074420C>T	GRCh38
NC_000007.13:g.45114019C>T , CM000669.1:g.45114019C>T	GRCh37
NC_000007.12:g.45080544C>T	NCBI36
NG_016295.1:g.79233C>T , LRG_664:g.79233C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.1054+12C>T MANE Select	ENSP00000258781.7:n.1054+12C>T
ENST00000648329.1:c.*1842+12C>T	ENSP00000496916.1:n.*1842+12C>T
ENST00000258781.10:c.1054+12C>T	ENSP00000258781.6:n.1054+12C>T
ENST00000381112.7:c.1117+12C>T	ENSP00000370503.3:n.1117+12C>T
ENST00000461377.5:n.1407+12C>T
ENST00000474617.1:c.763+12C>T	ENSP00000419474.1:n.763+12C>T
ENST00000475551.5:c.1036+12C>T	ENSP00000417180.1:n.1036+12C>T
ENST00000477605.1:n.1389+12C>T
ENST00000481194.1:n.4627+12C>T
ENST00000488727.5:c.*180+12C>T	ENSP00000417251.1:n.*180+12C>T
ENST00000541586.5:c.880+12C>T	ENSP00000444725.1:n.880+12C>T
ENST00000544363.5:c.781+12C>T	ENSP00000438035.1:n.781+12C>T
NM_001029835.2:c.1117+12C>T , LRG_664t1:c.1117+12C>T	NP_001025006.1:n.1117+12C>T
NM_001167934.1:c.880+12C>T	NP_001161406.1:n.880+12C>T
NM_001167935.1:c.781+12C>T	NP_001161407.1:n.781+12C>T
NM_031443.3:c.1054+12C>T , LRG_664t2:c.1054+12C>T	NP_113631.1:n.1054+12C>T
NR_030770.1:n.1136+12C>T
XM_006715785.2:c.943+12C>T	XP_006715848.1:n.943+12C>T
XM_006715786.2:c.844+12C>T	XP_006715849.1:n.844+12C>T
XM_011515561.1:c.1240+12C>T	XP_011513863.1:n.1240+12C>T
XM_011515562.1:c.1177+12C>T	XP_011513864.1:n.1177+12C>T
XM_011515563.1:c.1066+12C>T	XP_011513865.1:n.1066+12C>T
XM_011515564.1:c.1003+12C>T	XP_011513866.1:n.1003+12C>T
XR_428088.2:n.1072+12C>T
NM_001363458.1:c.1177+12C>T	NP_001350387.1:n.1177+12C>T
NM_001363459.1:c.1003+12C>T	NP_001350388.1:n.1003+12C>T
XM_006715785.4:c.943+12C>T	XP_006715848.1:n.943+12C>T
XM_006715786.3:c.844+12C>T	XP_006715849.1:n.844+12C>T
XM_011515561.2:c.1240+12C>T	XP_011513863.1:n.1240+12C>T
XM_011515563.3:c.1066+12C>T	XP_011513865.1:n.1066+12C>T
XR_428088.3:n.1092+12C>T
NM_001363458.2:c.1177+12C>T	NP_001350387.1:n.1177+12C>T
NM_001363459.2:c.1003+12C>T	NP_001350388.1:n.1003+12C>T
NM_031443.4:c.1054+12C>T MANE Select	NP_113631.1:n.1054+12C>T
NR_030770.2:n.1136+12C>T
NM_001167934.2:c.880+12C>T	NP_001161406.1:n.880+12C>T
NM_001167935.2:c.781+12C>T	NP_001161407.1:n.781+12C>T