Canonical Allele Identifier: CA1462199066

Gene: CCM2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000368_45000369insTT , CM000669.2:g.45000368_45000369insTT	GRCh38
NC_000007.13:g.45039967_45039968insTT , CM000669.1:g.45039967_45039968insTT	GRCh37
NC_000007.12:g.45006492_45006493insTT	NCBI36
NG_016295.1:g.5181_5182insTT , LRG_664:g.5181_5182insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.30+5_30+6insTT MANE Select	ENSP00000258781.7:n.30+5_30+6insTT
ENST00000648329.1:c.30+5_30+6insTT	ENSP00000496916.1:n.30+5_30+6insTT
ENST00000258781.10:c.30+5_30+6insTT	ENSP00000258781.6:n.30+5_30+6insTT
ENST00000461377.5:n.383+511_383+512insTT
ENST00000478582.5:n.175+5_175+6insTT
ENST00000488727.5:c.30+5_30+6insTT	ENSP00000417251.1:n.30+5_30+6insTT
ENST00000541586.5:c.30+5_30+6insTT	ENSP00000444725.1:n.30+5_30+6insTT
ENST00000544363.5:c.30+5_30+6insTT	ENSP00000438035.1:n.30+5_30+6insTT
NM_001167934.1:c.30+5_30+6insTT	NP_001161406.1:n.30+5_30+6insTT
NM_001167935.1:c.30+5_30+6insTT	NP_001161407.1:n.30+5_30+6insTT
NM_031443.3:c.30+5_30+6insTT , LRG_664t2:c.30+5_30+6insTT	NP_113631.1:n.30+5_30+6insTT
NR_030770.1:n.112+511_112+512insTT
XM_011515562.1:c.30+5_30+6insTT	XP_011513864.1:n.30+5_30+6insTT
XM_011515564.1:c.30+5_30+6insTT	XP_011513866.1:n.30+5_30+6insTT
NM_001363458.1:c.30+5_30+6insTT	NP_001350387.1:n.30+5_30+6insTT
NM_001363459.1:c.30+5_30+6insTT	NP_001350388.1:n.30+5_30+6insTT
XM_017012673.1:c.30+5_30+6insTT	XP_016868162.1:n.30+5_30+6insTT
NM_001363458.2:c.30+5_30+6insTT	NP_001350387.1:n.30+5_30+6insTT
NM_001363459.2:c.30+5_30+6insTT	NP_001350388.1:n.30+5_30+6insTT
NM_031443.4:c.30+5_30+6insTT MANE Select	NP_113631.1:n.30+5_30+6insTT
NR_030770.2:n.112+511_112+512insTT
NM_001167934.2:c.30+5_30+6insTT	NP_001161406.1:n.30+5_30+6insTT
NM_001167935.2:c.30+5_30+6insTT	NP_001161407.1:n.30+5_30+6insTT