Canonical Allele Identifier: CA367431194

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45074269G>T , CM000669.2:g.45074269G>T	GRCh38
NC_000007.13:g.45113868G>T , CM000669.1:g.45113868G>T	GRCh37
NC_000007.12:g.45080393G>T	NCBI36
NG_016295.1:g.79082G>T , LRG_664:g.79082G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.916-1G>T MANE Select	NP_113631.1:n.916-1G>T
ENST00000258781.11:c.916-1G>T MANE Select	ENSP00000258781.7:n.916-1G>T
NM_001029835.2:c.979-1G>T , LRG_664t1:c.979-1G>T	NP_001025006.1:n.979-1G>T
NM_001167934.1:c.742-1G>T	NP_001161406.1:n.742-1G>T
NM_001167934.2:c.742-1G>T	NP_001161406.1:n.742-1G>T
NM_001167935.1:c.643-1G>T	NP_001161407.1:n.643-1G>T
NM_001167935.2:c.643-1G>T	NP_001161407.1:n.643-1G>T
NM_001363458.1:c.1039-1G>T	NP_001350387.1:n.1039-1G>T
NM_001363458.2:c.1039-1G>T	NP_001350387.1:n.1039-1G>T
NM_001363459.1:c.865-1G>T	NP_001350388.1:n.865-1G>T
NM_001363459.2:c.865-1G>T	NP_001350388.1:n.865-1G>T
NM_031443.3:c.916-1G>T , LRG_664t2:c.916-1G>T	NP_113631.1:n.916-1G>T
NR_030770.1:n.998-1G>T
NR_030770.2:n.998-1G>T
ENST00000258781.10:c.916-1G>T	ENSP00000258781.6:n.916-1G>T
ENST00000381112.7:c.979-1G>T	ENSP00000370503.3:n.979-1G>T
ENST00000461377.5:n.1269-1G>T
ENST00000474617.1:c.625-1G>T	ENSP00000419474.1:n.625-1G>T
ENST00000475551.5:c.898-1G>T	ENSP00000417180.1:n.898-1G>T
ENST00000477605.1:n.1251-1G>T
ENST00000481194.1:n.4488G>T
ENST00000488727.5:c.*42-1G>T	ENSP00000417251.1:n.*42-1G>T
ENST00000541586.5:c.742-1G>T	ENSP00000444725.1:n.742-1G>T
ENST00000544363.5:c.643-1G>T	ENSP00000438035.1:n.643-1G>T
ENST00000648329.1:c.*1704-1G>T	ENSP00000496916.1:n.*1704-1G>T
XM_006715785.2:c.805-1G>T	XP_006715848.1:n.805-1G>T
XM_006715785.4:c.805-1G>T	XP_006715848.1:n.805-1G>T
XM_006715786.2:c.706-1G>T	XP_006715849.1:n.706-1G>T
XM_006715786.3:c.706-1G>T	XP_006715849.1:n.706-1G>T
XM_011515561.1:c.1102-1G>T	XP_011513863.1:n.1102-1G>T
XM_011515561.2:c.1102-1G>T	XP_011513863.1:n.1102-1G>T
XM_011515562.1:c.1039-1G>T	XP_011513864.1:n.1039-1G>T
XM_011515563.1:c.928-1G>T	XP_011513865.1:n.928-1G>T
XM_011515563.3:c.928-1G>T	XP_011513865.1:n.928-1G>T
XM_011515564.1:c.865-1G>T	XP_011513866.1:n.865-1G>T
XR_428088.2:n.934-1G>T
XR_428088.3:n.954-1G>T