Canonical Allele Identifier: CA367430580

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45069868C>T , CM000669.2:g.45069868C>T	GRCh38
NC_000007.13:g.45109467C>T , CM000669.1:g.45109467C>T	GRCh37
NC_000007.12:g.45075992C>T	NCBI36
NG_016295.1:g.74681C>T , LRG_664:g.74681C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031443.4:c.652C>T MANE Select	NP_113631.1:p.Gln218Ter
ENST00000258781.11:c.652C>T MANE Select	ENSP00000258781.7:p.Gln218Ter
NM_001029835.2:c.715C>T , LRG_664t1:c.715C>T	NP_001025006.1:p.Gln239Ter
NM_001167934.1:c.478C>T	NP_001161406.1:p.Gln160Ter
NM_001167934.2:c.478C>T	NP_001161406.1:p.Gln160Ter
NM_001167935.1:c.473-2858C>T	NP_001161407.1:n.473-2858C>T
NM_001167935.2:c.473-2858C>T	NP_001161407.1:n.473-2858C>T
NM_001363458.1:c.652C>T	NP_001350387.1:p.Gln218Ter
NM_001363458.2:c.652C>T	NP_001350387.1:p.Gln218Ter
NM_001363459.1:c.478C>T	NP_001350388.1:p.Gln160Ter
NM_001363459.2:c.478C>T	NP_001350388.1:p.Gln160Ter
NM_031443.3:c.652C>T , LRG_664t2:c.652C>T	NP_113631.1:p.Gln218Ter
NR_030770.1:n.734C>T
NR_030770.2:n.734C>T
ENST00000258781.10:c.652C>T	ENSP00000258781.6:p.Gln218Ter
ENST00000381112.7:c.715C>T	ENSP00000370503.3:p.Gln239Ter
ENST00000461377.5:n.1005C>T
ENST00000472223.5:n.719C>T
ENST00000474617.1:c.455-2858C>T	ENSP00000419474.1:n.455-2858C>T
ENST00000475551.5:c.634C>T	ENSP00000417180.1:p.Gln212Ter
ENST00000477605.1:n.987C>T
ENST00000478582.5:n.726C>T
ENST00000480382.1:c.129C>T
ENST00000480658.5:n.480C>T
ENST00000481194.1:n.87C>T
ENST00000482714.5:n.574C>T
ENST00000488727.5:c.652C>T	ENSP00000417251.1:p.Gln218Ter
ENST00000492883.5:n.527C>T
ENST00000541586.5:c.478C>T	ENSP00000444725.1:p.Gln160Ter
ENST00000544363.5:c.473-2858C>T	ENSP00000438035.1:n.473-2858C>T
ENST00000648329.1:c.652C>T	ENSP00000496916.1:p.Gln218Ter
XM_006715785.2:c.541C>T	XP_006715848.1:p.Gln181Ter
XM_006715785.4:c.541C>T	XP_006715848.1:p.Gln181Ter
XM_006715786.2:c.536-2858C>T	XP_006715849.1:n.536-2858C>T
XM_006715786.3:c.536-2858C>T	XP_006715849.1:n.536-2858C>T
XM_011515561.1:c.715C>T	XP_011513863.1:p.Gln239Ter
XM_011515561.2:c.715C>T	XP_011513863.1:p.Gln239Ter
XM_011515562.1:c.652C>T	XP_011513864.1:p.Gln218Ter
XM_011515563.1:c.541C>T	XP_011513865.1:p.Gln181Ter
XM_011515563.3:c.541C>T	XP_011513865.1:p.Gln181Ter
XM_011515564.1:c.478C>T	XP_011513866.1:p.Gln160Ter
XM_017012671.1:c.715C>T	XP_016868160.1:p.Gln239Ter
XM_017012672.2:c.541C>T	XP_016868161.1:p.Gln181Ter
XM_017012673.1:c.478C>T	XP_016868162.1:p.Gln160Ter
XR_428088.2:n.728C>T
XR_428088.3:n.748C>T