Canonical Allele Identifier: CA1023758

Gene: CASQ2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115725508C>T , CM000663.2:g.115725508C>T	GRCh38
NC_000001.10:g.116268129C>T , CM000663.1:g.116268129C>T	GRCh37
NC_000001.9:g.116069652C>T	NCBI36
NG_008802.1:g.48298G>A , LRG_404:g.48298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.*155G>A	ENSP00000518226.1:n.*155G>A
ENST00000261448.6:c.783G>A MANE Select	ENSP00000261448.5:p.Trp261Ter
ENST00000261448.5:c.783G>A	ENSP00000261448.5:p.Trp261Ter
NM_001232.3:c.783G>A , LRG_404t1:c.783G>A	NP_001223.2:p.Trp261Ter
NM_001232.4:c.783G>A MANE Select	NP_001223.2:p.Trp261Ter