Canonical Allele Identifier: CA1190729241
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738197A= , CM000663.2:g.115738197A= GRCh38
NC_000001.10:g.116280818A= , CM000663.1:g.116280818A= GRCh37
NC_000001.9:g.116082341A= NCBI36
NG_008802.1:g.35609T= , LRG_404:g.35609T=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+27T= ENSP00000518226.1:n.256+27T=
ENST00000261448.6:c.532+27T= MANE Select ENSP00000261448.5:n.532+27T=
ENST00000261448.5:c.532+27T= ENSP00000261448.5:n.532+27T=
NM_001232.3:c.532+27T= , LRG_404t1:c.532+27T= NP_001223.2:n.532+27T=
NM_001232.4:c.532+27T= MANE Select NP_001223.2:n.532+27T=