Canonical Allele Identifier: CA16605225

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075968T>G , CM000669.2:g.45075968T>G	GRCh38
NC_000007.13:g.45115567T>G , CM000669.1:g.45115567T>G	GRCh37
NC_000007.12:g.45082092T>G	NCBI36
NG_016295.1:g.80781T>G , LRG_664:g.80781T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.1246T>G MANE Select	ENSP00000258781.7:p.Ser416Ala
ENST00000648329.1:c.*2034T>G	ENSP00000496916.1:n.*2034T>G
ENST00000258781.10:c.1246T>G	ENSP00000258781.6:p.Ser416Ala
ENST00000381112.7:c.1309T>G	ENSP00000370503.3:p.Ser437Ala
ENST00000461377.5:n.1599T>G
ENST00000474617.1:c.955T>G	ENSP00000419474.1:p.Ser319Ala
ENST00000475551.5:c.1228T>G	ENSP00000417180.1:p.Ser410Ala
ENST00000477605.1:n.1581T>G
ENST00000481194.1:n.4819T>G
ENST00000488727.5:c.*372T>G	ENSP00000417251.1:n.*372T>G
ENST00000541586.5:c.1072T>G	ENSP00000444725.1:p.Ser358Ala
ENST00000544363.5:c.973T>G	ENSP00000438035.1:p.Ser325Ala
NM_001029835.2:c.1309T>G , LRG_664t1:c.1309T>G	NP_001025006.1:p.Ser437Ala
NM_001167934.1:c.1072T>G	NP_001161406.1:p.Ser358Ala
NM_001167935.1:c.973T>G	NP_001161407.1:p.Ser325Ala
NM_031443.3:c.1246T>G , LRG_664t2:c.1246T>G	NP_113631.1:p.Ser416Ala
NR_030770.1:n.1328T>G
XM_006715785.2:c.1135T>G	XP_006715848.1:p.Ser379Ala
XM_006715786.2:c.1036T>G	XP_006715849.1:p.Ser346Ala
XM_011515561.1:c.1432T>G	XP_011513863.1:p.Ser478Ala
XM_011515562.1:c.1369T>G	XP_011513864.1:p.Ser457Ala
XM_011515563.1:c.1258T>G	XP_011513865.1:p.Ser420Ala
XM_011515564.1:c.1195T>G	XP_011513866.1:p.Ser399Ala
XR_428088.2:n.1264T>G
NM_001363458.1:c.1369T>G	NP_001350387.1:p.Ser457Ala
NM_001363459.1:c.1195T>G	NP_001350388.1:p.Ser399Ala
XM_006715785.4:c.1135T>G	XP_006715848.1:p.Ser379Ala
XM_006715786.3:c.1036T>G	XP_006715849.1:p.Ser346Ala
XM_011515561.2:c.1432T>G	XP_011513863.1:p.Ser478Ala
XM_011515563.3:c.1258T>G	XP_011513865.1:p.Ser420Ala
XR_428088.3:n.1284T>G
NM_001363458.2:c.1369T>G	NP_001350387.1:p.Ser457Ala
NM_001363459.2:c.1195T>G	NP_001350388.1:p.Ser399Ala
NM_031443.4:c.1246T>G MANE Select	NP_113631.1:p.Ser416Ala
NR_030770.2:n.1328T>G
NM_001167934.2:c.1072T>G	NP_001161406.1:p.Ser358Ala
NM_001167935.2:c.973T>G	NP_001161407.1:p.Ser325Ala