Canonical Allele Identifier: CA2647281145
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768191del , CM000663.2:g.115768191del GRCh38
NC_000001.10:g.116310812del , CM000663.1:g.116310812del GRCh37
NC_000001.9:g.116112335del NCBI36
NG_008802.1:g.5617del , LRG_404:g.5617del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-43+119del ENSP00000518226.1:n.-43+119del
ENST00000261448.6:c.234+119del MANE Select ENSP00000261448.5:n.234+119del
ENST00000261448.5:c.234+119del ENSP00000261448.5:n.234+119del
NM_001232.3:c.234+119del , LRG_404t1:c.234+119del NP_001223.2:n.234+119del
NM_001232.4:c.234+119del MANE Select NP_001223.2:n.234+119del