Canonical Allele Identifier: CA1190729172
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738054G= , CM000663.2:g.115738054G= GRCh38
NC_000001.10:g.116280675G= , CM000663.1:g.116280675G= GRCh37
NC_000001.9:g.116082198G= NCBI36
NG_008802.1:g.35752C= , LRG_404:g.35752C=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+170C= ENSP00000518226.1:n.256+170C=
ENST00000261448.6:c.532+170C= MANE Select ENSP00000261448.5:n.532+170C=
ENST00000261448.5:c.532+170C= ENSP00000261448.5:n.532+170C=
NM_001232.3:c.532+170C= , LRG_404t1:c.532+170C= NP_001223.2:n.532+170C=
NM_001232.4:c.532+170C= MANE Select NP_001223.2:n.532+170C=