Canonical Allele Identifier: CA2682671762
Gene: CCM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.45000151_45000202del , CM000669.2:g.45000151_45000202del GRCh38
NC_000007.13:g.45039750_45039801del , CM000669.1:g.45039750_45039801del GRCh37
NC_000007.12:g.45006275_45006326del NCBI36
NG_016295.1:g.4964_5015del , LRG_664:g.4964_5015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461377.5:n.383+294_383+345del
NR_030770.1:n.112+294_112+345del
NR_030770.2:n.112+294_112+345del