Canonical Allele Identifier: CA1190711111
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115703007A= , CM000663.2:g.115703007A= GRCh38
NC_000001.10:g.116245628A= , CM000663.1:g.116245628A= GRCh37
NC_000001.9:g.116047151A= NCBI36
NG_008802.1:g.70799T= , LRG_404:g.70799T=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*312-12T= ENSP00000518226.1:n.*312-12T=
ENST00000261448.6:c.940-12T= MANE Select ENSP00000261448.5:n.940-12T=
ENST00000261448.5:c.940-12T= ENSP00000261448.5:n.940-12T=
NM_001232.3:c.940-12T= , LRG_404t1:c.940-12T= NP_001223.2:n.940-12T=
NM_001232.4:c.940-12T= MANE Select NP_001223.2:n.940-12T=