Canonical Allele Identifier: CA1704022537

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000278_45000279delinsTG , CM000669.2:g.45000278_45000279delinsTG	GRCh38
NC_000007.13:g.45039877_45039878delinsTG , CM000669.1:g.45039877_45039878delinsTG	GRCh37
NC_000007.12:g.45006402_45006403delinsTG	NCBI36
NG_016295.1:g.5091_5092delinsTG , LRG_664:g.5091_5092delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-56_-55delinsTG MANE Select	ENSP00000258781.7:n.-56_-55delinsTG
ENST00000258781.10:c.-56_-55delinsTG	ENSP00000258781.6:n.-56_-55delinsTG
ENST00000461377.5:n.383+421_383+422delinsTG
ENST00000478582.5:n.90_91delinsTG
ENST00000488727.5:c.-56_-55delinsTG	ENSP00000417251.1:n.-56_-55delinsTG
ENST00000541586.5:c.-56_-55delinsTG	ENSP00000444725.1:n.-56_-55delinsTG
ENST00000544363.5:c.-56_-55delinsTG	ENSP00000438035.1:n.-56_-55delinsTG
NM_001167934.1:c.-56_-55delinsTG	NP_001161406.1:n.-56_-55delinsTG
NM_001167935.1:c.-56_-55delinsTG	NP_001161407.1:n.-56_-55delinsTG
NM_031443.3:c.-56_-55delinsTG , LRG_664t2:c.-56_-55delinsTG	NP_113631.1:n.-56_-55delinsTG
NR_030770.1:n.112+421_112+422delinsTG
XM_011515562.1:c.-56_-55delinsTG	XP_011513864.1:n.-56_-55delinsTG
XM_011515564.1:c.-56_-55delinsTG	XP_011513866.1:n.-56_-55delinsTG
NM_001363458.1:c.-56_-55delinsTG	NP_001350387.1:n.-56_-55delinsTG
NM_001363459.1:c.-56_-55delinsTG	NP_001350388.1:n.-56_-55delinsTG
XM_017012673.1:c.-56_-55delinsTG	XP_016868162.1:n.-56_-55delinsTG
NM_001363458.2:c.-56_-55delinsTG	NP_001350387.1:n.-56_-55delinsTG
NM_001363459.2:c.-56_-55delinsTG	NP_001350388.1:n.-56_-55delinsTG
NM_031443.4:c.-56_-55delinsTG MANE Select	NP_113631.1:n.-56_-55delinsTG
NR_030770.2:n.112+421_112+422delinsTG
NM_001167934.2:c.-56_-55delinsTG	NP_001161406.1:n.-56_-55delinsTG
NM_001167935.2:c.-56_-55delinsTG	NP_001161407.1:n.-56_-55delinsTG