Canonical Allele Identifier: CA1190726943
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732987A= , CM000663.2:g.115732987A= GRCh38
NC_000001.10:g.116275608A= , CM000663.1:g.116275608A= GRCh37
NC_000001.9:g.116077131A= NCBI36
NG_008802.1:g.40819T= , LRG_404:g.40819T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.257-13T= ENSP00000518226.1:n.257-13T=
ENST00000261448.6:c.533-13T= MANE Select ENSP00000261448.5:n.533-13T=
ENST00000261448.5:c.533-13T= ENSP00000261448.5:n.533-13T=
NM_001232.3:c.533-13T= , LRG_404t1:c.533-13T= NP_001223.2:n.533-13T=
NM_001232.4:c.533-13T= MANE Select NP_001223.2:n.533-13T=