Canonical Allele Identifier: CA4247299

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075982G>A , CM000669.2:g.45075982G>A	GRCh38
NC_000007.13:g.45115581G>A , CM000669.1:g.45115581G>A	GRCh37
NC_000007.12:g.45082106G>A	NCBI36
NG_016295.1:g.80795G>A , LRG_664:g.80795G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.1260G>A MANE Select	ENSP00000258781.7:p.Glu420=
ENST00000648329.1:c.*2048G>A	ENSP00000496916.1:n.*2048G>A
ENST00000258781.10:c.1260G>A	ENSP00000258781.6:p.Glu420=
ENST00000381112.7:c.1323G>A	ENSP00000370503.3:p.Glu441=
ENST00000461377.5:n.1613G>A
ENST00000474617.1:c.969G>A	ENSP00000419474.1:p.Glu323=
ENST00000475551.5:c.1242G>A	ENSP00000417180.1:p.Glu414=
ENST00000477605.1:n.1595G>A
ENST00000481194.1:n.4833G>A
ENST00000488727.5:c.*386G>A	ENSP00000417251.1:n.*386G>A
ENST00000541586.5:c.1086G>A	ENSP00000444725.1:p.Glu362=
ENST00000544363.5:c.987G>A	ENSP00000438035.1:p.Glu329=
NM_001029835.2:c.1323G>A , LRG_664t1:c.1323G>A	NP_001025006.1:p.Glu441=
NM_001167934.1:c.1086G>A	NP_001161406.1:p.Glu362=
NM_001167935.1:c.987G>A	NP_001161407.1:p.Glu329=
NM_031443.3:c.1260G>A , LRG_664t2:c.1260G>A	NP_113631.1:p.Glu420=
NR_030770.1:n.1342G>A
XM_006715785.2:c.1149G>A	XP_006715848.1:p.Glu383=
XM_006715786.2:c.1050G>A	XP_006715849.1:p.Glu350=
XM_011515561.1:c.1446G>A	XP_011513863.1:p.Glu482=
XM_011515562.1:c.1383G>A	XP_011513864.1:p.Glu461=
XM_011515563.1:c.1272G>A	XP_011513865.1:p.Glu424=
XM_011515564.1:c.1209G>A	XP_011513866.1:p.Glu403=
XR_428088.2:n.1278G>A
NM_001363458.1:c.1383G>A	NP_001350387.1:p.Glu461=
NM_001363459.1:c.1209G>A	NP_001350388.1:p.Glu403=
XM_006715785.4:c.1149G>A	XP_006715848.1:p.Glu383=
XM_006715786.3:c.1050G>A	XP_006715849.1:p.Glu350=
XM_011515561.2:c.1446G>A	XP_011513863.1:p.Glu482=
XM_011515563.3:c.1272G>A	XP_011513865.1:p.Glu424=
XR_428088.3:n.1298G>A
NM_001363458.2:c.1383G>A	NP_001350387.1:p.Glu461=
NM_001363459.2:c.1209G>A	NP_001350388.1:p.Glu403=
NM_031443.4:c.1260G>A MANE Select	NP_113631.1:p.Glu420=
NR_030770.2:n.1342G>A
NM_001167934.2:c.1086G>A	NP_001161406.1:p.Glu362=
NM_001167935.2:c.987G>A	NP_001161407.1:p.Glu329=