Canonical Allele Identifier: CA341766962
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768309T>G , CM000663.2:g.115768309T>G GRCh38
NC_000001.10:g.116310930T>G , CM000663.1:g.116310930T>G GRCh37
NC_000001.9:g.116112453T>G NCBI36
NG_008802.1:g.5497A>C , LRG_404:g.5497A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-44A>C ENSP00000518226.1:n.-44A>C
ENST00000261448.6:c.233A>C MANE Select ENSP00000261448.5:p.Glu78Ala
ENST00000261448.5:c.233A>C ENSP00000261448.5:p.Glu78Ala
NM_001232.3:c.233A>C , LRG_404t1:c.233A>C NP_001223.2:p.Glu78Ala
NM_001232.4:c.233A>C MANE Select NP_001223.2:p.Glu78Ala