Canonical Allele Identifier: CA367430783

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45069962G>C , CM000669.2:g.45069962G>C	GRCh38
NC_000007.13:g.45109561G>C , CM000669.1:g.45109561G>C	GRCh37
NC_000007.12:g.45076086G>C	NCBI36
NG_016295.1:g.74775G>C , LRG_664:g.74775G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.745+1G>C MANE Select	NP_113631.1:n.745+1G>C
ENST00000258781.11:c.745+1G>C MANE Select	ENSP00000258781.7:n.745+1G>C
NM_001029835.2:c.808+1G>C , LRG_664t1:c.808+1G>C	NP_001025006.1:n.808+1G>C
NM_001167934.1:c.571+1G>C	NP_001161406.1:n.571+1G>C
NM_001167934.2:c.571+1G>C	NP_001161406.1:n.571+1G>C
NM_001167935.1:c.473-2764G>C	NP_001161407.1:n.473-2764G>C
NM_001167935.2:c.473-2764G>C	NP_001161407.1:n.473-2764G>C
NM_001363458.1:c.745+1G>C	NP_001350387.1:n.745+1G>C
NM_001363458.2:c.745+1G>C	NP_001350387.1:n.745+1G>C
NM_001363459.1:c.571+1G>C	NP_001350388.1:n.571+1G>C
NM_001363459.2:c.571+1G>C	NP_001350388.1:n.571+1G>C
NM_031443.3:c.745+1G>C , LRG_664t2:c.745+1G>C	NP_113631.1:n.745+1G>C
NR_030770.1:n.827+1G>C
NR_030770.2:n.827+1G>C
ENST00000258781.10:c.745+1G>C	ENSP00000258781.6:n.745+1G>C
ENST00000381112.7:c.808+1G>C	ENSP00000370503.3:n.808+1G>C
ENST00000461377.5:n.1098+1G>C
ENST00000472223.5:n.812+1G>C
ENST00000474617.1:c.455-2764G>C	ENSP00000419474.1:n.455-2764G>C
ENST00000475551.5:c.727+1G>C	ENSP00000417180.1:n.727+1G>C
ENST00000477605.1:n.1080+1G>C
ENST00000478582.5:n.819+1G>C
ENST00000480382.1:c.222+1G>C
ENST00000480658.5:n.573+1G>C
ENST00000481194.1:n.181G>C
ENST00000482714.5:n.667+1G>C
ENST00000488727.5:c.745+1G>C	ENSP00000417251.1:n.745+1G>C
ENST00000492883.5:n.620+1G>C
ENST00000541586.5:c.571+1G>C	ENSP00000444725.1:n.571+1G>C
ENST00000544363.5:c.473-2764G>C	ENSP00000438035.1:n.473-2764G>C
ENST00000648329.1:c.745+1G>C	ENSP00000496916.1:n.745+1G>C
XM_006715785.2:c.634+1G>C	XP_006715848.1:n.634+1G>C
XM_006715785.4:c.634+1G>C	XP_006715848.1:n.634+1G>C
XM_006715786.2:c.536-2764G>C	XP_006715849.1:n.536-2764G>C
XM_006715786.3:c.536-2764G>C	XP_006715849.1:n.536-2764G>C
XM_011515561.1:c.808+1G>C	XP_011513863.1:n.808+1G>C
XM_011515561.2:c.808+1G>C	XP_011513863.1:n.808+1G>C
XM_011515562.1:c.745+1G>C	XP_011513864.1:n.745+1G>C
XM_011515563.1:c.634+1G>C	XP_011513865.1:n.634+1G>C
XM_011515563.3:c.634+1G>C	XP_011513865.1:n.634+1G>C
XM_011515564.1:c.571+1G>C	XP_011513866.1:n.571+1G>C
XM_017012671.1:c.808+1G>C	XP_016868160.1:n.808+1G>C
XM_017012672.2:c.634+1G>C	XP_016868161.1:n.634+1G>C
XM_017012673.1:c.571+1G>C	XP_016868162.1:n.571+1G>C
XR_428088.2:n.821+1G>C
XR_428088.3:n.841+1G>C