Canonical Allele Identifier: CA1704022678

Gene: CCM2

Linked Data

• dbSNP Id: rs889745436
• gnomAD v4: 7-45000343-G-GAGGGCAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000356_45000364dup , CM000669.2:g.45000356_45000364dup	GRCh38
NC_000007.13:g.45039955_45039963dup , CM000669.1:g.45039955_45039963dup	GRCh37
NC_000007.12:g.45006480_45006488dup	NCBI36
NG_016295.1:g.5169_5177dup , LRG_664:g.5169_5177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.23_30+1dup
ENST00000648329.1:c.23_30+1dup
ENST00000258781.10:c.23_30+1dup
ENST00000461377.5:n.383+499_383+507dup
ENST00000478582.5:n.168_175+1dup
ENST00000488727.5:c.23_30+1dup
ENST00000541586.5:c.23_30+1dup
ENST00000544363.5:c.23_30+1dup
NM_001167934.1:c.23_30+1dup
NM_001167935.1:c.23_30+1dup
NM_031443.3:c.23_30+1dup , LRG_664t2:c.23_30+1dup
NR_030770.1:n.112+499_112+507dup
XM_011515562.1:c.23_30+1dup
XM_011515564.1:c.23_30+1dup
NM_001363458.1:c.23_30+1dup
NM_001363459.1:c.23_30+1dup
XM_017012673.1:c.23_30+1dup
NM_001363458.2:c.23_30+1dup
NM_001363459.2:c.23_30+1dup
NM_031443.4:c.23_30+1dup
NR_030770.2:n.112+499_112+507dup
NM_001167934.2:c.23_30+1dup
NM_001167935.2:c.23_30+1dup