Canonical Allele Identifier: CA1190715906
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700682T= , CM000663.2:g.115700682T= GRCh38
NC_000001.10:g.116243303T= , CM000663.1:g.116243303T= GRCh37
NC_000001.9:g.116044826T= NCBI36
NG_008802.1:g.73124A= , LRG_404:g.73124A=

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1131A= ENSP00000518226.1:n.*1131A=
ENST00000261448.6:c.*559A= MANE Select ENSP00000261448.5:n.*559A=
ENST00000261448.5:c.*559A= ENSP00000261448.5:n.*559A=
NM_001232.3:c.*559A= , LRG_404t1:c.*559A= NP_001223.2:n.*559A=
NM_001232.4:c.*559A= MANE Select NP_001223.2:n.*559A=