Canonical Allele Identifier: CA4247307

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45076012C>T , CM000669.2:g.45076012C>T	GRCh38
NC_000007.13:g.45115611C>T , CM000669.1:g.45115611C>T	GRCh37
NC_000007.12:g.45082136C>T	NCBI36
NG_016295.1:g.80825C>T , LRG_664:g.80825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.1290C>T MANE Select	ENSP00000258781.7:p.Ser430=
ENST00000648329.1:c.*2078C>T	ENSP00000496916.1:n.*2078C>T
ENST00000258781.10:c.1290C>T	ENSP00000258781.6:p.Ser430=
ENST00000381112.7:c.1353C>T	ENSP00000370503.3:p.Ser451=
ENST00000461377.5:n.1643C>T
ENST00000474617.1:c.999C>T	ENSP00000419474.1:p.Ser333=
ENST00000475551.5:c.1272C>T	ENSP00000417180.1:p.Ser424=
ENST00000477605.1:n.1625C>T
ENST00000481194.1:n.4863C>T
ENST00000488727.5:c.*416C>T	ENSP00000417251.1:n.*416C>T
ENST00000541586.5:c.1116C>T	ENSP00000444725.1:p.Ser372=
ENST00000544363.5:c.1017C>T	ENSP00000438035.1:p.Ser339=
NM_001029835.2:c.1353C>T , LRG_664t1:c.1353C>T	NP_001025006.1:p.Ser451=
NM_001167934.1:c.1116C>T	NP_001161406.1:p.Ser372=
NM_001167935.1:c.1017C>T	NP_001161407.1:p.Ser339=
NM_031443.3:c.1290C>T , LRG_664t2:c.1290C>T	NP_113631.1:p.Ser430=
NR_030770.1:n.1372C>T
XM_006715785.2:c.1179C>T	XP_006715848.1:p.Ser393=
XM_006715786.2:c.1080C>T	XP_006715849.1:p.Ser360=
XM_011515561.1:c.1476C>T	XP_011513863.1:p.Ser492=
XM_011515562.1:c.1413C>T	XP_011513864.1:p.Ser471=
XM_011515563.1:c.1302C>T	XP_011513865.1:p.Ser434=
XM_011515564.1:c.1239C>T	XP_011513866.1:p.Ser413=
XR_428088.2:n.1308C>T
NM_001363458.1:c.1413C>T	NP_001350387.1:p.Ser471=
NM_001363459.1:c.1239C>T	NP_001350388.1:p.Ser413=
XM_006715785.4:c.1179C>T	XP_006715848.1:p.Ser393=
XM_006715786.3:c.1080C>T	XP_006715849.1:p.Ser360=
XM_011515561.2:c.1476C>T	XP_011513863.1:p.Ser492=
XM_011515563.3:c.1302C>T	XP_011513865.1:p.Ser434=
XR_428088.3:n.1328C>T
NM_001363458.2:c.1413C>T	NP_001350387.1:p.Ser471=
NM_001363459.2:c.1239C>T	NP_001350388.1:p.Ser413=
NM_031443.4:c.1290C>T MANE Select	NP_113631.1:p.Ser430=
NR_030770.2:n.1372C>T
NM_001167934.2:c.1116C>T	NP_001161406.1:p.Ser372=
NM_001167935.2:c.1017C>T	NP_001161407.1:p.Ser339=