Canonical Allele Identifier: CA4247001

Gene: CCM2

Linked Data

• dbSNP Id: rs752071985
• ExAC: 7:45107993 C / T
• gnomAD v2: 7-45107993-C-T
• gnomAD v4: 7-45068394-C-T
• MyVariant Identifiers: chr7:g.45107993C>T (hg19) ; chr7:g.45068394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068394C>T , CM000669.2:g.45068394C>T	GRCh38
NC_000007.13:g.45107993C>T , CM000669.1:g.45107993C>T	GRCh37
NC_000007.12:g.45074518C>T	NCBI36
NG_016295.1:g.73207C>T , LRG_664:g.73207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.473-49C>T MANE Select	ENSP00000258781.7:n.473-49C>T
ENST00000648329.1:c.473-49C>T	ENSP00000496916.1:n.473-49C>T
ENST00000258781.10:c.473-49C>T	ENSP00000258781.6:n.473-49C>T
ENST00000381112.7:c.536-49C>T	ENSP00000370503.3:n.536-49C>T
ENST00000461377.5:n.826-49C>T
ENST00000472223.5:n.540-49C>T
ENST00000474617.1:c.454+3748C>T	ENSP00000419474.1:n.454+3748C>T
ENST00000475551.5:c.455-49C>T	ENSP00000417180.1:n.455-49C>T
ENST00000477605.1:n.759C>T
ENST00000478582.5:n.684-1432C>T
ENST00000480658.5:n.301-49C>T
ENST00000481194.1:n.45-1432C>T
ENST00000482714.5:n.395-49C>T
ENST00000488727.5:c.473-49C>T	ENSP00000417251.1:n.473-49C>T
ENST00000492883.5:n.485-1432C>T
ENST00000541586.5:c.299-49C>T	ENSP00000444725.1:n.299-49C>T
ENST00000544363.5:c.472+3748C>T	ENSP00000438035.1:n.472+3748C>T
NM_001029835.2:c.536-49C>T , LRG_664t1:c.536-49C>T	NP_001025006.1:n.536-49C>T
NM_001167934.1:c.299-49C>T	NP_001161406.1:n.299-49C>T
NM_001167935.1:c.472+3748C>T	NP_001161407.1:n.472+3748C>T
NM_031443.3:c.473-49C>T , LRG_664t2:c.473-49C>T	NP_113631.1:n.473-49C>T
NR_030770.1:n.555-49C>T
XM_006715785.2:c.362-49C>T	XP_006715848.1:n.362-49C>T
XM_006715786.2:c.535+3748C>T	XP_006715849.1:n.535+3748C>T
XM_011515561.1:c.536-49C>T	XP_011513863.1:n.536-49C>T
XM_011515562.1:c.473-49C>T	XP_011513864.1:n.473-49C>T
XM_011515563.1:c.362-49C>T	XP_011513865.1:n.362-49C>T
XM_011515564.1:c.299-49C>T	XP_011513866.1:n.299-49C>T
XR_428088.2:n.549-49C>T
NM_001363458.1:c.473-49C>T	NP_001350387.1:n.473-49C>T
NM_001363459.1:c.299-49C>T	NP_001350388.1:n.299-49C>T
XM_006715785.4:c.362-49C>T	XP_006715848.1:n.362-49C>T
XM_006715786.3:c.535+3748C>T	XP_006715849.1:n.535+3748C>T
XM_011515561.2:c.536-49C>T	XP_011513863.1:n.536-49C>T
XM_011515563.3:c.362-49C>T	XP_011513865.1:n.362-49C>T
XM_017012671.1:c.536-49C>T	XP_016868160.1:n.536-49C>T
XM_017012672.2:c.362-49C>T	XP_016868161.1:n.362-49C>T
XM_017012673.1:c.299-49C>T	XP_016868162.1:n.299-49C>T
XR_428088.3:n.569-49C>T
NM_001363458.2:c.473-49C>T	NP_001350387.1:n.473-49C>T
NM_001363459.2:c.299-49C>T	NP_001350388.1:n.299-49C>T
NM_031443.4:c.473-49C>T MANE Select	NP_113631.1:n.473-49C>T
NR_030770.2:n.555-49C>T
NM_001167934.2:c.299-49C>T	NP_001161406.1:n.299-49C>T
NM_001167935.2:c.472+3748C>T	NP_001161407.1:n.472+3748C>T