Canonical Allele Identifier: CA2682672783

Gene: CCM2

Linked Data

• gnomAD v4: 7-45000351-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000353del , CM000669.2:g.45000353del	GRCh38
NC_000007.13:g.45039952del , CM000669.1:g.45039952del	GRCh37
NC_000007.12:g.45006477del	NCBI36
NG_016295.1:g.5166del , LRG_664:g.5166del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.20del MANE Select	ENSP00000258781.7:p.Lys7ArgfsTer16
ENST00000648329.1:c.20del	ENSP00000496916.1:p.Lys7ArgfsTer16
ENST00000258781.10:c.20del	ENSP00000258781.6:p.Lys7ArgfsTer16
ENST00000461377.5:n.383+496del
ENST00000478582.5:n.165del
ENST00000488727.5:c.20del	ENSP00000417251.1:p.Lys7ArgfsTer16
ENST00000541586.5:c.20del	ENSP00000444725.1:p.Lys7ArgfsTer6
ENST00000544363.5:c.20del	ENSP00000438035.1:p.Lys7ArgfsTer16
NM_001167934.1:c.20del	NP_001161406.1:p.Lys7ArgfsTer6
NM_001167935.1:c.20del	NP_001161407.1:p.Lys7ArgfsTer16
NM_031443.3:c.20del , LRG_664t2:c.20del	NP_113631.1:p.Lys7ArgfsTer16
NR_030770.1:n.112+496del
XM_011515562.1:c.20del	XP_011513864.1:p.Lys7ArgfsTer16
XM_011515564.1:c.20del	XP_011513866.1:p.Lys7ArgfsTer6
NM_001363458.1:c.20del	NP_001350387.1:p.Lys7ArgfsTer16
NM_001363459.1:c.20del	NP_001350388.1:p.Lys7ArgfsTer6
XM_017012673.1:c.20del	XP_016868162.1:p.Lys7ArgfsTer6
NM_001363458.2:c.20del	NP_001350387.1:p.Lys7ArgfsTer16
NM_001363459.2:c.20del	NP_001350388.1:p.Lys7ArgfsTer6
NM_031443.4:c.20del MANE Select	NP_113631.1:p.Lys7ArgfsTer16
NR_030770.2:n.112+496del
NM_001167934.2:c.20del	NP_001161406.1:p.Lys7ArgfsTer6
NM_001167935.2:c.20del	NP_001161407.1:p.Lys7ArgfsTer16