Canonical Allele Identifier: CA1190711125
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703020A= , CM000663.2:g.115703020A= GRCh38
NC_000001.10:g.116245641A= , CM000663.1:g.116245641A= GRCh37
NC_000001.9:g.116047164A= NCBI36
NG_008802.1:g.70786T= , LRG_404:g.70786T=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-25T= ENSP00000518226.1:n.*312-25T=
ENST00000261448.6:c.940-25T= MANE Select ENSP00000261448.5:n.940-25T=
ENST00000261448.5:c.940-25T= ENSP00000261448.5:n.940-25T=
NM_001232.3:c.940-25T= , LRG_404t1:c.940-25T= NP_001223.2:n.940-25T=
NM_001232.4:c.940-25T= MANE Select NP_001223.2:n.940-25T=