Canonical Allele Identifier: CA341767176
Gene: CASQ2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768404T>A , CM000663.2:g.115768404T>A GRCh38
NC_000001.10:g.116311025T>A , CM000663.1:g.116311025T>A GRCh37
NC_000001.9:g.116112548T>A NCBI36
NG_008802.1:g.5402A>T , LRG_404:g.5402A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-139A>T ENSP00000518226.1:n.-139A>T
ENST00000261448.6:c.138A>T MANE Select ENSP00000261448.5:p.Leu46Phe
ENST00000261448.5:c.138A>T ENSP00000261448.5:p.Leu46Phe
NM_001232.3:c.138A>T , LRG_404t1:c.138A>T NP_001223.2:p.Leu46Phe
NM_001232.4:c.138A>T MANE Select NP_001223.2:p.Leu46Phe