Canonical Allele Identifier: CA2499218900

Gene: CCM2

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45064574del , CM000669.2:g.45064574del	GRCh38
NC_000007.13:g.45104173del , CM000669.1:g.45104173del	GRCh37
NC_000007.12:g.45070698del	NCBI36
NG_016295.1:g.69387del , LRG_664:g.69387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.400del MANE Select	ENSP00000258781.7:p.Val134CysfsTer22
ENST00000648329.1:c.400del	ENSP00000496916.1:p.Val134CysfsTer22
ENST00000258781.10:c.400del	ENSP00000258781.6:p.Val134CysfsTer22
ENST00000381112.7:c.463del	ENSP00000370503.3:p.Val155CysfsTer22
ENST00000461377.5:n.753del
ENST00000472223.5:n.467del
ENST00000474617.1:c.382del	ENSP00000419474.1:p.Val128CysfsTer22
ENST00000475551.5:c.382del	ENSP00000417180.1:p.Val128CysfsTer22
ENST00000476594.1:n.485del
ENST00000478582.5:n.611del
ENST00000480658.5:n.301-3869del
ENST00000482714.5:n.322del
ENST00000488727.5:c.400del	ENSP00000417251.1:p.Val134CysfsTer22
ENST00000492883.5:n.412del
ENST00000541586.5:c.226del	ENSP00000444725.1:p.Val76CysfsTer22
ENST00000544363.5:c.400del	ENSP00000438035.1:p.Val134CysfsTer22
NM_001029835.2:c.463del , LRG_664t1:c.463del	NP_001025006.1:p.Val155CysfsTer22
NM_001167934.1:c.226del	NP_001161406.1:p.Val76CysfsTer22
NM_001167935.1:c.400del	NP_001161407.1:p.Val134CysfsTer22
NM_031443.3:c.400del , LRG_664t2:c.400del	NP_113631.1:p.Val134CysfsTer22
NR_030770.1:n.482del
XM_006715785.2:c.289del	XP_006715848.1:p.Val97CysfsTer22
XM_006715786.2:c.463del	XP_006715849.1:p.Val155CysfsTer22
XM_011515561.1:c.463del	XP_011513863.1:p.Val155CysfsTer22
XM_011515562.1:c.400del	XP_011513864.1:p.Val134CysfsTer22
XM_011515563.1:c.289del	XP_011513865.1:p.Val97CysfsTer22
XM_011515564.1:c.226del	XP_011513866.1:p.Val76CysfsTer22
XR_428088.2:n.476del
NM_001363458.1:c.400del	NP_001350387.1:p.Val134CysfsTer22
NM_001363459.1:c.226del	NP_001350388.1:p.Val76CysfsTer22
XM_006715785.4:c.289del	XP_006715848.1:p.Val97CysfsTer22
XM_006715786.3:c.463del	XP_006715849.1:p.Val155CysfsTer22
XM_011515561.2:c.463del	XP_011513863.1:p.Val155CysfsTer22
XM_011515563.3:c.289del	XP_011513865.1:p.Val97CysfsTer22
XM_017012671.1:c.463del	XP_016868160.1:p.Val155CysfsTer22
XM_017012672.2:c.289del	XP_016868161.1:p.Val97CysfsTer22
XM_017012673.1:c.226del	XP_016868162.1:p.Val76CysfsTer22
XR_428088.3:n.496del
NM_001363458.2:c.400del	NP_001350387.1:p.Val134CysfsTer22
NM_001363459.2:c.226del	NP_001350388.1:p.Val76CysfsTer22
NM_031443.4:c.400del MANE Select	NP_113631.1:p.Val134CysfsTer22
NR_030770.2:n.482del
NM_001167934.2:c.226del	NP_001161406.1:p.Val76CysfsTer22
NM_001167935.2:c.400del	NP_001161407.1:p.Val134CysfsTer22