Canonical Allele Identifier: CA1704022388

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000204_45000208delinsGACTT , CM000669.2:g.45000204_45000208delinsGACTT	GRCh38
NC_000007.13:g.45039803_45039807delinsGACTT , CM000669.1:g.45039803_45039807delinsGACTT	GRCh37
NC_000007.12:g.45006328_45006332delinsGACTT	NCBI36
NG_016295.1:g.5017_5021delinsGACTT , LRG_664:g.5017_5021delinsGACTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-130_-126delinsGACTT MANE Select	ENSP00000258781.7:n.-130_-126delinsGACTT
ENST00000258781.10:c.-130_-126delinsGACTT	ENSP00000258781.6:n.-130_-126delinsGACTT
ENST00000461377.5:n.383+347_383+351delinsGACTT
ENST00000478582.5:n.16_20delinsGACTT
ENST00000541586.5:c.-130_-126delinsGACTT	ENSP00000444725.1:n.-130_-126delinsGACTT
ENST00000544363.5:c.-130_-126delinsGACTT	ENSP00000438035.1:n.-130_-126delinsGACTT
NM_001167934.1:c.-130_-126delinsGACTT	NP_001161406.1:n.-130_-126delinsGACTT
NM_001167935.1:c.-130_-126delinsGACTT	NP_001161407.1:n.-130_-126delinsGACTT
NM_031443.3:c.-130_-126delinsGACTT , LRG_664t2:c.-130_-126delinsGACTT	NP_113631.1:n.-130_-126delinsGACTT
NR_030770.1:n.112+347_112+351delinsGACTT
NM_001363458.1:c.-130_-126delinsGACTT	NP_001350387.1:n.-130_-126delinsGACTT
NM_001363459.1:c.-130_-126delinsGACTT	NP_001350388.1:n.-130_-126delinsGACTT
NM_001363458.2:c.-130_-126delinsGACTT	NP_001350387.1:n.-130_-126delinsGACTT
NM_001363459.2:c.-130_-126delinsGACTT	NP_001350388.1:n.-130_-126delinsGACTT
NM_031443.4:c.-130_-126delinsGACTT MANE Select	NP_113631.1:n.-130_-126delinsGACTT
NR_030770.2:n.112+347_112+351delinsGACTT
NM_001167934.2:c.-130_-126delinsGACTT	NP_001161406.1:n.-130_-126delinsGACTT
NM_001167935.2:c.-130_-126delinsGACTT	NP_001161407.1:n.-130_-126delinsGACTT