Canonical Allele Identifier: CA2695207602

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000298_45000337del , CM000669.2:g.45000298_45000337del	GRCh38
NC_000007.13:g.45039897_45039936del , CM000669.1:g.45039897_45039936del	GRCh37
NC_000007.12:g.45006422_45006461del	NCBI36
NG_016295.1:g.5111_5150del , LRG_664:g.5111_5150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.-36_4del
ENST00000258781.10:c.-36_4del
ENST00000461377.5:n.383+441_383+480del
ENST00000478582.5:n.110_149del
ENST00000488727.5:c.-36_4del
ENST00000541586.5:c.-36_4del
ENST00000544363.5:c.-36_4del
NM_001167934.1:c.-36_4del
NM_001167935.1:c.-36_4del
NM_031443.3:c.-36_4del , LRG_664t2:c.-36_4del
NR_030770.1:n.112+441_112+480del
XM_011515562.1:c.-36_4del
XM_011515564.1:c.-36_4del
NM_001363458.1:c.-36_4del
NM_001363459.1:c.-36_4del
XM_017012673.1:c.-36_4del
NM_001363458.2:c.-36_4del
NM_001363459.2:c.-36_4del
NM_031443.4:c.-36_4del
NR_030770.2:n.112+441_112+480del
NM_001167934.2:c.-36_4del
NM_001167935.2:c.-36_4del