Canonical Allele Identifier: CA420178296
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768338_115768339insA , CM000663.2:g.115768338_115768339insA GRCh38
NC_000001.10:g.116310959_116310960insA , CM000663.1:g.116310959_116310960insA GRCh37
NC_000001.9:g.116112482_116112483insA NCBI36
NG_008802.1:g.5467_5468insT , LRG_404:g.5467_5468insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-74_-73insT ENSP00000518226.1:n.-74_-73insT
ENST00000261448.6:c.203_204insT MANE Select ENSP00000261448.5:p.Lys68AsnfsTer11
ENST00000261448.5:c.203_204insT ENSP00000261448.5:p.Lys68AsnfsTer11
NM_001232.3:c.203_204insT , LRG_404t1:c.203_204insT NP_001223.2:p.Lys68AsnfsTer11
NM_001232.4:c.203_204insT MANE Select NP_001223.2:p.Lys68AsnfsTer11