Canonical Allele Identifier: CA4246873

Gene: CCM2

Linked Data

• ClinVar Variation Id: 493452
• ClinVar RCV Id: RCV000585503 ; RCV002061966 ; RCV002377207
• dbSNP Id: rs146579519
• ExAC: 7:45077947 G / A
• gnomAD v2: 7-45077947-G-A
• gnomAD v3: 7-45038348-G-A
• gnomAD v4: 7-45038348-G-A
• MyVariant Identifiers: chr7:g.45077947G>A (hg19) ; chr7:g.45038348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45038348G>A , CM000669.2:g.45038348G>A	GRCh38
NC_000007.13:g.45077947G>A , CM000669.1:g.45077947G>A	GRCh37
NC_000007.12:g.45044472G>A	NCBI36
NG_016295.1:g.43161G>A , LRG_664:g.43161G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258781.11:c.126G>A MANE Select	ENSP00000258781.7:p.Leu42=
ENST00000648329.1:c.126G>A	ENSP00000496916.1:p.Leu42=
ENST00000258781.10:c.126G>A	ENSP00000258781.6:p.Leu42=
ENST00000381112.7:c.189G>A	ENSP00000370503.3:p.Leu63=
ENST00000461377.5:n.479G>A
ENST00000472223.5:n.193G>A
ENST00000474617.1:c.108G>A	ENSP00000419474.1:p.Leu36=
ENST00000475551.5:c.108G>A	ENSP00000417180.1:p.Leu36=
ENST00000476594.1:n.88G>A
ENST00000478169.5:n.348G>A
ENST00000478582.5:n.337G>A
ENST00000480658.5:n.222G>A
ENST00000482714.5:n.126+10551G>A
ENST00000488727.5:c.126G>A	ENSP00000417251.1:p.Leu42=
ENST00000492883.5:n.222G>A
ENST00000541586.5:c.31-25570G>A	ENSP00000444725.1:n.31-25570G>A
ENST00000544363.5:c.126G>A	ENSP00000438035.1:p.Leu42=
NM_001029835.2:c.189G>A , LRG_664t1:c.189G>A	NP_001025006.1:p.Leu63=
NM_001167934.1:c.31-25570G>A	NP_001161406.1:n.31-25570G>A
NM_001167935.1:c.126G>A	NP_001161407.1:p.Leu42=
NM_031443.3:c.126G>A , LRG_664t2:c.126G>A	NP_113631.1:p.Leu42=
NR_030770.1:n.208G>A
XM_006715785.2:c.93+10551G>A	XP_006715848.1:n.93+10551G>A
XM_006715786.2:c.189G>A	XP_006715849.1:p.Leu63=
XM_011515561.1:c.189G>A	XP_011513863.1:p.Leu63=
XM_011515562.1:c.126G>A	XP_011513864.1:p.Leu42=
XM_011515563.1:c.93+10551G>A	XP_011513865.1:n.93+10551G>A
XM_011515564.1:c.31-25570G>A	XP_011513866.1:n.31-25570G>A
XR_428088.2:n.202G>A
NM_001363458.1:c.126G>A	NP_001350387.1:p.Leu42=
NM_001363459.1:c.31-25570G>A	NP_001350388.1:n.31-25570G>A
XM_006715785.4:c.93+10551G>A	XP_006715848.1:n.93+10551G>A
XM_006715786.3:c.189G>A	XP_006715849.1:p.Leu63=
XM_011515561.2:c.189G>A	XP_011513863.1:p.Leu63=
XM_011515563.3:c.93+10551G>A	XP_011513865.1:n.93+10551G>A
XM_017012671.1:c.189G>A	XP_016868160.1:p.Leu63=
XM_017012672.2:c.93+10551G>A	XP_016868161.1:n.93+10551G>A
XM_017012673.1:c.31-25570G>A	XP_016868162.1:n.31-25570G>A
XR_428088.3:n.222G>A
NM_001363458.2:c.126G>A	NP_001350387.1:p.Leu42=
NM_001363459.2:c.31-25570G>A	NP_001350388.1:n.31-25570G>A
NM_031443.4:c.126G>A MANE Select	NP_113631.1:p.Leu42=
NR_030770.2:n.208G>A
NM_001167934.2:c.31-25570G>A	NP_001161406.1:n.31-25570G>A
NM_001167935.2:c.126G>A	NP_001161407.1:p.Leu42=