Canonical Allele Identifier: CA4247294

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075960C>T , CM000669.2:g.45075960C>T	GRCh38
NC_000007.13:g.45115559C>T , CM000669.1:g.45115559C>T	GRCh37
NC_000007.12:g.45082084C>T	NCBI36
NG_016295.1:g.80773C>T , LRG_664:g.80773C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.1238C>T MANE Select	NP_113631.1:p.Ser413Leu
ENST00000258781.11:c.1238C>T MANE Select	ENSP00000258781.7:p.Ser413Leu
NM_001029835.2:c.1301C>T , LRG_664t1:c.1301C>T	NP_001025006.1:p.Ser434Leu
NM_001167934.1:c.1064C>T	NP_001161406.1:p.Ser355Leu
NM_001167934.2:c.1064C>T	NP_001161406.1:p.Ser355Leu
NM_001167935.1:c.965C>T	NP_001161407.1:p.Ser322Leu
NM_001167935.2:c.965C>T	NP_001161407.1:p.Ser322Leu
NM_001363458.1:c.1361C>T	NP_001350387.1:p.Ser454Leu
NM_001363458.2:c.1361C>T	NP_001350387.1:p.Ser454Leu
NM_001363459.1:c.1187C>T	NP_001350388.1:p.Ser396Leu
NM_001363459.2:c.1187C>T	NP_001350388.1:p.Ser396Leu
NM_031443.3:c.1238C>T , LRG_664t2:c.1238C>T	NP_113631.1:p.Ser413Leu
NR_030770.1:n.1320C>T
NR_030770.2:n.1320C>T
ENST00000258781.10:c.1238C>T	ENSP00000258781.6:p.Ser413Leu
ENST00000381112.7:c.1301C>T	ENSP00000370503.3:p.Ser434Leu
ENST00000461377.5:n.1591C>T
ENST00000474617.1:c.947C>T	ENSP00000419474.1:p.Ser316Leu
ENST00000475551.5:c.1220C>T	ENSP00000417180.1:p.Ser407Leu
ENST00000477605.1:n.1573C>T
ENST00000481194.1:n.4811C>T
ENST00000488727.5:c.*364C>T	ENSP00000417251.1:n.*364C>T
ENST00000541586.5:c.1064C>T	ENSP00000444725.1:p.Ser355Leu
ENST00000544363.5:c.965C>T	ENSP00000438035.1:p.Ser322Leu
ENST00000648329.1:c.*2026C>T	ENSP00000496916.1:n.*2026C>T
XM_006715785.2:c.1127C>T	XP_006715848.1:p.Ser376Leu
XM_006715785.4:c.1127C>T	XP_006715848.1:p.Ser376Leu
XM_006715786.2:c.1028C>T	XP_006715849.1:p.Ser343Leu
XM_006715786.3:c.1028C>T	XP_006715849.1:p.Ser343Leu
XM_011515561.1:c.1424C>T	XP_011513863.1:p.Ser475Leu
XM_011515561.2:c.1424C>T	XP_011513863.1:p.Ser475Leu
XM_011515562.1:c.1361C>T	XP_011513864.1:p.Ser454Leu
XM_011515563.1:c.1250C>T	XP_011513865.1:p.Ser417Leu
XM_011515563.3:c.1250C>T	XP_011513865.1:p.Ser417Leu
XM_011515564.1:c.1187C>T	XP_011513866.1:p.Ser396Leu
XR_428088.2:n.1256C>T
XR_428088.3:n.1276C>T