Canonical Allele Identifier: CA341763889
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738272C>A , CM000663.2:g.115738272C>A GRCh38
NC_000001.10:g.116280893C>A , CM000663.1:g.116280893C>A GRCh37
NC_000001.9:g.116082416C>A NCBI36
NG_008802.1:g.35534G>T , LRG_404:g.35534G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.208G>T ENSP00000518226.1:p.Glu70Ter
ENST00000261448.6:c.484G>T MANE Select ENSP00000261448.5:p.Glu162Ter
ENST00000261448.5:c.484G>T ENSP00000261448.5:p.Glu162Ter
NM_001232.3:c.484G>T , LRG_404t1:c.484G>T NP_001223.2:p.Glu162Ter
NM_001232.4:c.484G>T MANE Select NP_001223.2:p.Glu162Ter