Canonical Allele Identifier: CA573825252

Gene: CCM2

Linked Data

• dbSNP Id: rs1277414564
• gnomAD v2: 7-45039855-G-A
• gnomAD v3: 7-45000256-G-A
• gnomAD v4: 7-45000256-G-A
• MyVariant Identifiers: chr7:g.45039855G>A (hg19) ; chr7:g.45000256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000256G>A , CM000669.2:g.45000256G>A	GRCh38
NC_000007.13:g.45039855G>A , CM000669.1:g.45039855G>A	GRCh37
NC_000007.12:g.45006380G>A	NCBI36
NG_016295.1:g.5069G>A , LRG_664:g.5069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-78G>A MANE Select	ENSP00000258781.7:n.-78G>A
ENST00000258781.10:c.-78G>A	ENSP00000258781.6:n.-78G>A
ENST00000461377.5:n.383+399G>A
ENST00000478582.5:n.68G>A
ENST00000488727.5:c.-78G>A	ENSP00000417251.1:n.-78G>A
ENST00000541586.5:c.-78G>A	ENSP00000444725.1:n.-78G>A
ENST00000544363.5:c.-78G>A	ENSP00000438035.1:n.-78G>A
NM_001167934.1:c.-78G>A	NP_001161406.1:n.-78G>A
NM_001167935.1:c.-78G>A	NP_001161407.1:n.-78G>A
NM_031443.3:c.-78G>A , LRG_664t2:c.-78G>A	NP_113631.1:n.-78G>A
NR_030770.1:n.112+399G>A
XM_011515562.1:c.-78G>A	XP_011513864.1:n.-78G>A
XM_011515564.1:c.-78G>A	XP_011513866.1:n.-78G>A
NM_001363458.1:c.-78G>A	NP_001350387.1:n.-78G>A
NM_001363459.1:c.-78G>A	NP_001350388.1:n.-78G>A
XM_017012673.1:c.-78G>A	XP_016868162.1:n.-78G>A
NM_001363458.2:c.-78G>A	NP_001350387.1:n.-78G>A
NM_001363459.2:c.-78G>A	NP_001350388.1:n.-78G>A
NM_031443.4:c.-78G>A MANE Select	NP_113631.1:n.-78G>A
NR_030770.2:n.112+399G>A
NM_001167934.2:c.-78G>A	NP_001161406.1:n.-78G>A
NM_001167935.2:c.-78G>A	NP_001161407.1:n.-78G>A