Canonical Allele Identifier: CA1190711123
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703018T= , CM000663.2:g.115703018T= GRCh38
NC_000001.10:g.116245639T= , CM000663.1:g.116245639T= GRCh37
NC_000001.9:g.116047162T= NCBI36
NG_008802.1:g.70788A= , LRG_404:g.70788A=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-23A= ENSP00000518226.1:n.*312-23A=
ENST00000261448.6:c.940-23A= MANE Select ENSP00000261448.5:n.940-23A=
ENST00000261448.5:c.940-23A= ENSP00000261448.5:n.940-23A=
NM_001232.3:c.940-23A= , LRG_404t1:c.940-23A= NP_001223.2:n.940-23A=
NM_001232.4:c.940-23A= MANE Select NP_001223.2:n.940-23A=