Canonical Allele Identifier: CA2647280050
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738170del , CM000663.2:g.115738170del GRCh38
NC_000001.10:g.116280791del , CM000663.1:g.116280791del GRCh37
NC_000001.9:g.116082314del NCBI36
NG_008802.1:g.35637del , LRG_404:g.35637del

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+55del ENSP00000518226.1:n.256+55del
ENST00000261448.6:c.532+55del MANE Select ENSP00000261448.5:n.532+55del
ENST00000261448.5:c.532+55del ENSP00000261448.5:n.532+55del
NM_001232.3:c.532+55del , LRG_404t1:c.532+55del NP_001223.2:n.532+55del
NM_001232.4:c.532+55del MANE Select NP_001223.2:n.532+55del