Canonical Allele Identifier: CA341766157
Community Standard Title: NM_001232.4(CASQ2):c.1188T>A (p.Asp396Glu)
Gene: CASQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701253A>T , CM000663.2:g.115701253A>T GRCh38
NC_000001.10:g.116243874A>T , CM000663.1:g.116243874A>T GRCh37
NC_000001.9:g.116045397A>T NCBI36
NG_008802.1:g.72553T>A , LRG_404:g.72553T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001232.4:c.1188T>A MANE Select NP_001223.2:p.Asp396Glu
ENST00000261448.6:c.1188T>A MANE Select ENSP00000261448.5:p.Asp396Glu
NM_001232.3:c.1188T>A , LRG_404t1:c.1188T>A NP_001223.2:p.Asp396Glu
ENST00000261448.5:c.1188T>A ENSP00000261448.5:p.Asp396Glu
ENST00000488931.2:c.*560T>A ENSP00000518226.1:n.*560T>A