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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: CASQ2 ENSG00000118729

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Description

calsequestrin 2 (cardiac muscle) [Source:HGNC Symbol;Acc:1513]

Gene Synonyms

PDIB2

Location

Chromosome 1: 116,242,628-116,311,402 reverse strand.

GRCh37:CM000663.1

About this gene

This gene has 3 transcripts (splice variants), 1 paralogue and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000261448.5	CASQ2-001	2674	399aa	ENSP00000261448.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS884	O14958	NM_001232.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000456138.2	CASQ2-201	1369	328aa	ENSP00000403858.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DIB0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000488931.1	CASQ2-002	220	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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