Canonical Allele Identifier: CA4247040

Gene: CCM2

Linked Data

• dbSNP Id: rs761271260
• ExAC: 7:45108215 C / T
• gnomAD v2: 7-45108215-C-T
• gnomAD v4: 7-45068616-C-T
• MyVariant Identifiers: chr7:g.45108215C>T (hg19) ; chr7:g.45068616C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068616C>T , CM000669.2:g.45068616C>T	GRCh38
NC_000007.13:g.45108215C>T , CM000669.1:g.45108215C>T	GRCh37
NC_000007.12:g.45074740C>T	NCBI36
NG_016295.1:g.73429C>T , LRG_664:g.73429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.609+37C>T MANE Select	ENSP00000258781.7:n.609+37C>T
ENST00000648329.1:c.609+37C>T	ENSP00000496916.1:n.609+37C>T
ENST00000258781.10:c.609+37C>T	ENSP00000258781.6:n.609+37C>T
ENST00000381112.7:c.672+37C>T	ENSP00000370503.3:n.672+37C>T
ENST00000461377.5:n.962+37C>T
ENST00000472223.5:n.676+37C>T
ENST00000474617.1:c.454+3970C>T	ENSP00000419474.1:n.454+3970C>T
ENST00000475551.5:c.591+37C>T	ENSP00000417180.1:n.591+37C>T
ENST00000477605.1:n.944+37C>T
ENST00000478582.5:n.684-1210C>T
ENST00000480382.1:c.86+37C>T
ENST00000480658.5:n.437+37C>T
ENST00000481194.1:n.45-1210C>T
ENST00000482714.5:n.531+37C>T
ENST00000488727.5:c.609+37C>T	ENSP00000417251.1:n.609+37C>T
ENST00000492883.5:n.485-1210C>T
ENST00000541586.5:c.435+37C>T	ENSP00000444725.1:n.435+37C>T
ENST00000544363.5:c.472+3970C>T	ENSP00000438035.1:n.472+3970C>T
NM_001029835.2:c.672+37C>T , LRG_664t1:c.672+37C>T	NP_001025006.1:n.672+37C>T
NM_001167934.1:c.435+37C>T	NP_001161406.1:n.435+37C>T
NM_001167935.1:c.472+3970C>T	NP_001161407.1:n.472+3970C>T
NM_031443.3:c.609+37C>T , LRG_664t2:c.609+37C>T	NP_113631.1:n.609+37C>T
NR_030770.1:n.691+37C>T
XM_006715785.2:c.498+37C>T	XP_006715848.1:n.498+37C>T
XM_006715786.2:c.535+3970C>T	XP_006715849.1:n.535+3970C>T
XM_011515561.1:c.672+37C>T	XP_011513863.1:n.672+37C>T
XM_011515562.1:c.609+37C>T	XP_011513864.1:n.609+37C>T
XM_011515563.1:c.498+37C>T	XP_011513865.1:n.498+37C>T
XM_011515564.1:c.435+37C>T	XP_011513866.1:n.435+37C>T
XR_428088.2:n.685+37C>T
NM_001363458.1:c.609+37C>T	NP_001350387.1:n.609+37C>T
NM_001363459.1:c.435+37C>T	NP_001350388.1:n.435+37C>T
XM_006715785.4:c.498+37C>T	XP_006715848.1:n.498+37C>T
XM_006715786.3:c.535+3970C>T	XP_006715849.1:n.535+3970C>T
XM_011515561.2:c.672+37C>T	XP_011513863.1:n.672+37C>T
XM_011515563.3:c.498+37C>T	XP_011513865.1:n.498+37C>T
XM_017012671.1:c.672+37C>T	XP_016868160.1:n.672+37C>T
XM_017012672.2:c.498+37C>T	XP_016868161.1:n.498+37C>T
XM_017012673.1:c.435+37C>T	XP_016868162.1:n.435+37C>T
XR_428088.3:n.705+37C>T
NM_001363458.2:c.609+37C>T	NP_001350387.1:n.609+37C>T
NM_001363459.2:c.435+37C>T	NP_001350388.1:n.435+37C>T
NM_031443.4:c.609+37C>T MANE Select	NP_113631.1:n.609+37C>T
NR_030770.2:n.691+37C>T
NM_001167934.2:c.435+37C>T	NP_001161406.1:n.435+37C>T
NM_001167935.2:c.472+3970C>T	NP_001161407.1:n.472+3970C>T