Canonical Allele Identifier: CA573825243

Gene: CCM2

Linked Data

• dbSNP Id: rs1160501577
• gnomAD v2: 7-45039818-T-G
• gnomAD v3: 7-45000219-T-G
• gnomAD v4: 7-45000219-T-G
• MyVariant Identifiers: chr7:g.45039818T>G (hg19) ; chr7:g.45000219T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000219T>G , CM000669.2:g.45000219T>G	GRCh38
NC_000007.13:g.45039818T>G , CM000669.1:g.45039818T>G	GRCh37
NC_000007.12:g.45006343T>G	NCBI36
NG_016295.1:g.5032T>G , LRG_664:g.5032T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-115T>G MANE Select	ENSP00000258781.7:n.-115T>G
ENST00000258781.10:c.-115T>G	ENSP00000258781.6:n.-115T>G
ENST00000461377.5:n.383+362T>G
ENST00000478582.5:n.31T>G
ENST00000541586.5:c.-115T>G	ENSP00000444725.1:n.-115T>G
ENST00000544363.5:c.-115T>G	ENSP00000438035.1:n.-115T>G
NM_001167934.1:c.-115T>G	NP_001161406.1:n.-115T>G
NM_001167935.1:c.-115T>G	NP_001161407.1:n.-115T>G
NM_031443.3:c.-115T>G , LRG_664t2:c.-115T>G	NP_113631.1:n.-115T>G
NR_030770.1:n.112+362T>G
XM_011515562.1:c.-115T>G	XP_011513864.1:n.-115T>G
NM_001363458.1:c.-115T>G	NP_001350387.1:n.-115T>G
NM_001363459.1:c.-115T>G	NP_001350388.1:n.-115T>G
NM_001363458.2:c.-115T>G	NP_001350387.1:n.-115T>G
NM_001363459.2:c.-115T>G	NP_001350388.1:n.-115T>G
NM_031443.4:c.-115T>G MANE Select	NP_113631.1:n.-115T>G
NR_030770.2:n.112+362T>G
NM_001167934.2:c.-115T>G	NP_001161406.1:n.-115T>G
NM_001167935.2:c.-115T>G	NP_001161407.1:n.-115T>G