Canonical Allele Identifier: CA454888093

Gene: CCM2

Linked Data

• MyVariant Identifiers: chr7:g.45108052A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45068453A>C , CM000669.2:g.45068453A>C	GRCh38
NC_000007.13:g.45108052A>C , CM000669.1:g.45108052A>C	GRCh37
NC_000007.12:g.45074577A>C	NCBI36
NG_016295.1:g.73266A>C , LRG_664:g.73266A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.483A>C MANE Select	ENSP00000258781.7:p.Pro161=
ENST00000648329.1:c.483A>C	ENSP00000496916.1:p.Pro161=
ENST00000258781.10:c.483A>C	ENSP00000258781.6:p.Pro161=
ENST00000381112.7:c.546A>C	ENSP00000370503.3:p.Pro182=
ENST00000461377.5:n.836A>C
ENST00000472223.5:n.550A>C
ENST00000474617.1:c.454+3807A>C	ENSP00000419474.1:n.454+3807A>C
ENST00000475551.5:c.465A>C	ENSP00000417180.1:p.Pro155=
ENST00000477605.1:n.818A>C
ENST00000478582.5:n.684-1373A>C
ENST00000480658.5:n.311A>C
ENST00000481194.1:n.45-1373A>C
ENST00000482714.5:n.405A>C
ENST00000488727.5:c.483A>C	ENSP00000417251.1:p.Pro161=
ENST00000492883.5:n.485-1373A>C
ENST00000541586.5:c.309A>C	ENSP00000444725.1:p.Pro103=
ENST00000544363.5:c.472+3807A>C	ENSP00000438035.1:n.472+3807A>C
NM_001029835.2:c.546A>C , LRG_664t1:c.546A>C	NP_001025006.1:p.Pro182=
NM_001167934.1:c.309A>C	NP_001161406.1:p.Pro103=
NM_001167935.1:c.472+3807A>C	NP_001161407.1:n.472+3807A>C
NM_031443.3:c.483A>C , LRG_664t2:c.483A>C	NP_113631.1:p.Pro161=
NR_030770.1:n.565A>C
XM_006715785.2:c.372A>C	XP_006715848.1:p.Pro124=
XM_006715786.2:c.535+3807A>C	XP_006715849.1:n.535+3807A>C
XM_011515561.1:c.546A>C	XP_011513863.1:p.Pro182=
XM_011515562.1:c.483A>C	XP_011513864.1:p.Pro161=
XM_011515563.1:c.372A>C	XP_011513865.1:p.Pro124=
XM_011515564.1:c.309A>C	XP_011513866.1:p.Pro103=
XR_428088.2:n.559A>C
NM_001363458.1:c.483A>C	NP_001350387.1:p.Pro161=
NM_001363459.1:c.309A>C	NP_001350388.1:p.Pro103=
XM_006715785.4:c.372A>C	XP_006715848.1:p.Pro124=
XM_006715786.3:c.535+3807A>C	XP_006715849.1:n.535+3807A>C
XM_011515561.2:c.546A>C	XP_011513863.1:p.Pro182=
XM_011515563.3:c.372A>C	XP_011513865.1:p.Pro124=
XM_017012671.1:c.546A>C	XP_016868160.1:p.Pro182=
XM_017012672.2:c.372A>C	XP_016868161.1:p.Pro124=
XM_017012673.1:c.309A>C	XP_016868162.1:p.Pro103=
XR_428088.3:n.579A>C
NM_001363458.2:c.483A>C	NP_001350387.1:p.Pro161=
NM_001363459.2:c.309A>C	NP_001350388.1:p.Pro103=
NM_031443.4:c.483A>C MANE Select	NP_113631.1:p.Pro161=
NR_030770.2:n.565A>C
NM_001167934.2:c.309A>C	NP_001161406.1:p.Pro103=
NM_001167935.2:c.472+3807A>C	NP_001161407.1:n.472+3807A>C