Canonical Allele Identifier: CA2574037294
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732833del , CM000663.2:g.115732833del GRCh38
NC_000001.10:g.116275454del , CM000663.1:g.116275454del GRCh37
NC_000001.9:g.116076977del NCBI36
NG_008802.1:g.40974del , LRG_404:g.40974del

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.330+69del ENSP00000518226.1:n.330+69del
ENST00000261448.6:c.606+69del MANE Select ENSP00000261448.5:n.606+69del
ENST00000261448.5:c.606+69del ENSP00000261448.5:n.606+69del
ENST00000488931.1:n.27+69del
NM_001232.3:c.606+69del , LRG_404t1:c.606+69del NP_001223.2:n.606+69del
NM_001232.4:c.606+69del MANE Select NP_001223.2:n.606+69del