Canonical Allele Identifier: CA4247155

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45073455C>T , CM000669.2:g.45073455C>T	GRCh38
NC_000007.13:g.45113054C>T , CM000669.1:g.45113054C>T	GRCh37
NC_000007.12:g.45079579C>T	NCBI36
NG_016295.1:g.78268C>T , LRG_664:g.78268C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.804-5C>T MANE Select	ENSP00000258781.7:n.804-5C>T
ENST00000648329.1:c.*1592-5C>T	ENSP00000496916.1:n.*1592-5C>T
ENST00000258781.10:c.804-5C>T	ENSP00000258781.6:n.804-5C>T
ENST00000381112.7:c.867-5C>T	ENSP00000370503.3:n.867-5C>T
ENST00000461377.5:n.1157-5C>T
ENST00000470837.1:n.447-5C>T
ENST00000474617.1:c.513-5C>T	ENSP00000419474.1:n.513-5C>T
ENST00000475551.5:c.786-5C>T	ENSP00000417180.1:n.786-5C>T
ENST00000477605.1:n.1139-5C>T
ENST00000478582.5:n.878-5C>T
ENST00000481194.1:n.3674C>T
ENST00000488727.5:c.746-5C>T	ENSP00000417251.1:n.746-5C>T
ENST00000541586.5:c.630-5C>T	ENSP00000444725.1:n.630-5C>T
ENST00000544363.5:c.531-5C>T	ENSP00000438035.1:n.531-5C>T
NM_001029835.2:c.867-5C>T , LRG_664t1:c.867-5C>T	NP_001025006.1:n.867-5C>T
NM_001167934.1:c.630-5C>T	NP_001161406.1:n.630-5C>T
NM_001167935.1:c.531-5C>T	NP_001161407.1:n.531-5C>T
NM_031443.3:c.804-5C>T , LRG_664t2:c.804-5C>T	NP_113631.1:n.804-5C>T
NR_030770.1:n.886-5C>T
XM_006715785.2:c.693-5C>T	XP_006715848.1:n.693-5C>T
XM_006715786.2:c.594-5C>T	XP_006715849.1:n.594-5C>T
XM_011515561.1:c.990-5C>T	XP_011513863.1:n.990-5C>T
XM_011515562.1:c.927-5C>T	XP_011513864.1:n.927-5C>T
XM_011515563.1:c.816-5C>T	XP_011513865.1:n.816-5C>T
XM_011515564.1:c.753-5C>T	XP_011513866.1:n.753-5C>T
XR_428088.2:n.822-5C>T
NM_001363458.1:c.927-5C>T	NP_001350387.1:n.927-5C>T
NM_001363459.1:c.753-5C>T	NP_001350388.1:n.753-5C>T
XM_006715785.4:c.693-5C>T	XP_006715848.1:n.693-5C>T
XM_006715786.3:c.594-5C>T	XP_006715849.1:n.594-5C>T
XM_011515561.2:c.990-5C>T	XP_011513863.1:n.990-5C>T
XM_011515563.3:c.816-5C>T	XP_011513865.1:n.816-5C>T
XR_428088.3:n.842-5C>T
NM_001363458.2:c.927-5C>T	NP_001350387.1:n.927-5C>T
NM_001363459.2:c.753-5C>T	NP_001350388.1:n.753-5C>T
NM_031443.4:c.804-5C>T MANE Select	NP_113631.1:n.804-5C>T
NR_030770.2:n.886-5C>T
NM_001167934.2:c.630-5C>T	NP_001161406.1:n.630-5C>T
NM_001167935.2:c.531-5C>T	NP_001161407.1:n.531-5C>T