Canonical Allele Identifier: CA2647280157
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738468del , CM000663.2:g.115738468del GRCh38
NC_000001.10:g.116281089del , CM000663.1:g.116281089del GRCh37
NC_000001.9:g.116082612del NCBI36
NG_008802.1:g.35341del , LRG_404:g.35341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-130del ENSP00000518226.1:n.145-130del
ENST00000261448.6:c.421-130del MANE Select ENSP00000261448.5:n.421-130del
ENST00000261448.5:c.421-130del ENSP00000261448.5:n.421-130del
NM_001232.3:c.421-130del , LRG_404t1:c.421-130del NP_001223.2:n.421-130del
NM_001232.4:c.421-130del MANE Select NP_001223.2:n.421-130del