Canonical Allele Identifier: CA4247253

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45075783G>A , CM000669.2:g.45075783G>A	GRCh38
NC_000007.13:g.45115382G>A , CM000669.1:g.45115382G>A	GRCh37
NC_000007.12:g.45081907G>A	NCBI36
NG_016295.1:g.80596G>A , LRG_664:g.80596G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.1061G>A MANE Select	NP_113631.1:p.Arg354Lys
ENST00000258781.11:c.1061G>A MANE Select	ENSP00000258781.7:p.Arg354Lys
NM_001029835.2:c.1124G>A , LRG_664t1:c.1124G>A	NP_001025006.1:p.Arg375Lys
NM_001167934.1:c.887G>A	NP_001161406.1:p.Arg296Lys
NM_001167934.2:c.887G>A	NP_001161406.1:p.Arg296Lys
NM_001167935.1:c.788G>A	NP_001161407.1:p.Arg263Lys
NM_001167935.2:c.788G>A	NP_001161407.1:p.Arg263Lys
NM_001363458.1:c.1184G>A	NP_001350387.1:p.Arg395Lys
NM_001363458.2:c.1184G>A	NP_001350387.1:p.Arg395Lys
NM_001363459.1:c.1010G>A	NP_001350388.1:p.Arg337Lys
NM_001363459.2:c.1010G>A	NP_001350388.1:p.Arg337Lys
NM_031443.3:c.1061G>A , LRG_664t2:c.1061G>A	NP_113631.1:p.Arg354Lys
NR_030770.1:n.1143G>A
NR_030770.2:n.1143G>A
ENST00000258781.10:c.1061G>A	ENSP00000258781.6:p.Arg354Lys
ENST00000381112.7:c.1124G>A	ENSP00000370503.3:p.Arg375Lys
ENST00000461377.5:n.1414G>A
ENST00000474617.1:c.770G>A	ENSP00000419474.1:p.Arg257Lys
ENST00000475551.5:c.1043G>A	ENSP00000417180.1:p.Arg348Lys
ENST00000477605.1:n.1396G>A
ENST00000481194.1:n.4634G>A
ENST00000488727.5:c.*187G>A	ENSP00000417251.1:n.*187G>A
ENST00000541586.5:c.887G>A	ENSP00000444725.1:p.Arg296Lys
ENST00000544363.5:c.788G>A	ENSP00000438035.1:p.Arg263Lys
ENST00000648329.1:c.*1849G>A	ENSP00000496916.1:n.*1849G>A
XM_006715785.2:c.950G>A	XP_006715848.1:p.Arg317Lys
XM_006715785.4:c.950G>A	XP_006715848.1:p.Arg317Lys
XM_006715786.2:c.851G>A	XP_006715849.1:p.Arg284Lys
XM_006715786.3:c.851G>A	XP_006715849.1:p.Arg284Lys
XM_011515561.1:c.1247G>A	XP_011513863.1:p.Arg416Lys
XM_011515561.2:c.1247G>A	XP_011513863.1:p.Arg416Lys
XM_011515562.1:c.1184G>A	XP_011513864.1:p.Arg395Lys
XM_011515563.1:c.1073G>A	XP_011513865.1:p.Arg358Lys
XM_011515563.3:c.1073G>A	XP_011513865.1:p.Arg358Lys
XM_011515564.1:c.1010G>A	XP_011513866.1:p.Arg337Lys
XR_428088.2:n.1079G>A
XR_428088.3:n.1099G>A