Canonical Allele Identifier: CA301936

Gene: CASQ2

Linked Data

• ClinVar Variation Id: 190755
• ClinVar RCV Id: RCV000170910 ; RCV000618569
• dbSNP Id: rs139228801
• ExAC: 1:116247829 G / A
• gnomAD v2: 1-116247829-G-A
• gnomAD v3: 1-115705208-G-A
• gnomAD v4: 1-115705208-G-A
• MyVariant Identifiers: chr1:g.116247829G>A (hg19) ; chr1:g.115705208G>A (hg38)
• PubMed: PMID:18684293 ; PMID:21265816 ; PMID:22553997 ; PMID:24025405 ; PMID:27538377

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115705208G>A , CM000663.2:g.115705208G>A	GRCh38
NC_000001.10:g.116247829G>A , CM000663.1:g.116247829G>A	GRCh37
NC_000001.9:g.116049352G>A	NCBI36
NG_008802.1:g.68598C>T , LRG_404:g.68598C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000488931.2:c.*295C>T	ENSP00000518226.1:n.*295C>T
ENST00000261448.6:c.923C>T MANE Select	ENSP00000261448.5:p.Pro308Leu
ENST00000261448.5:c.923C>T	ENSP00000261448.5:p.Pro308Leu
NM_001232.3:c.923C>T , LRG_404t1:c.923C>T	NP_001223.2:p.Pro308Leu
NM_001232.4:c.923C>T MANE Select	NP_001223.2:p.Pro308Leu