Canonical Allele Identifier: CA341767208
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768417A>T , CM000663.2:g.115768417A>T GRCh38
NC_000001.10:g.116311038A>T , CM000663.1:g.116311038A>T GRCh37
NC_000001.9:g.116112561A>T NCBI36
NG_008802.1:g.5389T>A , LRG_404:g.5389T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-152T>A ENSP00000518226.1:n.-152T>A
ENST00000261448.6:c.125T>A MANE Select ENSP00000261448.5:p.Phe42Tyr
ENST00000261448.5:c.125T>A ENSP00000261448.5:p.Phe42Tyr
NM_001232.3:c.125T>A , LRG_404t1:c.125T>A NP_001223.2:p.Phe42Tyr
NM_001232.4:c.125T>A MANE Select NP_001223.2:p.Phe42Tyr