Canonical Allele Identifier: CA1142916700
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732993A= , CM000663.2:g.115732993A= GRCh38
NC_000001.10:g.116275614A= , CM000663.1:g.116275614A= GRCh37
NC_000001.9:g.116077137A= NCBI36
NG_008802.1:g.40813T= , LRG_404:g.40813T=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.257-19T= ENSP00000518226.1:n.257-19T=
ENST00000261448.6:c.533-19T= MANE Select ENSP00000261448.5:n.533-19T=
ENST00000261448.5:c.533-19T= ENSP00000261448.5:n.533-19T=
NM_001232.3:c.533-19T= , LRG_404t1:c.533-19T= NP_001223.2:n.533-19T=
NM_001232.4:c.533-19T= MANE Select NP_001223.2:n.533-19T=