Canonical Allele Identifier: CA1190742533
Gene: CASQ2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768479_115768480delinsCT , CM000663.2:g.115768479_115768480delinsCT GRCh38
NC_000001.10:g.116311100_116311101delinsCT , CM000663.1:g.116311100_116311101delinsCT GRCh37
NC_000001.9:g.116112623_116112624delinsCT NCBI36
NG_008802.1:g.5326_5327delinsAG , LRG_404:g.5326_5327delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-215_-214delinsAG ENSP00000518226.1:n.-215_-214delinsAG
ENST00000261448.6:c.62_63delinsAG MANE Select ENSP00000261448.5:p.Glu21=
ENST00000261448.5:c.62_63delinsAG ENSP00000261448.5:p.Glu21=
NM_001232.3:c.62_63delinsAG , LRG_404t1:c.62_63delinsAG NP_001223.2:p.Glu21=
NM_001232.4:c.62_63delinsAG MANE Select NP_001223.2:p.Glu21=
Search 100 bp 5'
Search 100 bp 3'