Canonical Allele Identifier: CA341767125
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768383G>T , CM000663.2:g.115768383G>T GRCh38
NC_000001.10:g.116311004G>T , CM000663.1:g.116311004G>T GRCh37
NC_000001.9:g.116112527G>T NCBI36
NG_008802.1:g.5423C>A , LRG_404:g.5423C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-118C>A ENSP00000518226.1:n.-118C>A
ENST00000261448.6:c.159C>A MANE Select ENSP00000261448.5:p.Cys53Ter
ENST00000261448.5:c.159C>A ENSP00000261448.5:p.Cys53Ter
NM_001232.3:c.159C>A , LRG_404t1:c.159C>A NP_001223.2:p.Cys53Ter
NM_001232.4:c.159C>A MANE Select NP_001223.2:p.Cys53Ter