Canonical Allele Identifier: CA1100830406

Gene: CCM2

Linked Data

• gnomAD v3: 7-45000207-T-TC
• gnomAD v4: 7-45000207-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000207_45000208insC , CM000669.2:g.45000207_45000208insC	GRCh38
NC_000007.13:g.45039806_45039807insC , CM000669.1:g.45039806_45039807insC	GRCh37
NC_000007.12:g.45006331_45006332insC	NCBI36
NG_016295.1:g.5020_5021insC , LRG_664:g.5020_5021insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-127_-126insC MANE Select	ENSP00000258781.7:n.-127_-126insC
ENST00000258781.10:c.-127_-126insC	ENSP00000258781.6:n.-127_-126insC
ENST00000461377.5:n.383+350_383+351insC
ENST00000478582.5:n.19_20insC
ENST00000541586.5:c.-127_-126insC	ENSP00000444725.1:n.-127_-126insC
ENST00000544363.5:c.-127_-126insC	ENSP00000438035.1:n.-127_-126insC
NM_001167934.1:c.-127_-126insC	NP_001161406.1:n.-127_-126insC
NM_001167935.1:c.-127_-126insC	NP_001161407.1:n.-127_-126insC
NM_031443.3:c.-127_-126insC , LRG_664t2:c.-127_-126insC	NP_113631.1:n.-127_-126insC
NR_030770.1:n.112+350_112+351insC
XM_011515562.1:c.-127_-126insC	XP_011513864.1:n.-127_-126insC
NM_001363458.1:c.-127_-126insC	NP_001350387.1:n.-127_-126insC
NM_001363459.1:c.-127_-126insC	NP_001350388.1:n.-127_-126insC
NM_001363458.2:c.-127_-126insC	NP_001350387.1:n.-127_-126insC
NM_001363459.2:c.-127_-126insC	NP_001350388.1:n.-127_-126insC
NM_031443.4:c.-127_-126insC MANE Select	NP_113631.1:n.-127_-126insC
NR_030770.2:n.112+350_112+351insC
NM_001167934.2:c.-127_-126insC	NP_001161406.1:n.-127_-126insC
NM_001167935.2:c.-127_-126insC	NP_001161407.1:n.-127_-126insC