Canonical Allele Identifier: CA175364
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162814
ClinVar RCV Id: RCV000150224 RCV000171562 RCV000415704 RCV000617394 RCV000723880 RCV000852589 RCV000999608
dbSNP Id: rs146664754
ExAC: 1:116275561 G / C
gnomAD v2: 1-116275561-G-C
gnomAD v3: 1-115732940-G-C
gnomAD v4: 1-115732940-G-C
COSMIC: COSM3385060
MyVariant Identifiers: chr1:g.116275561G>C (hg19) chr1:g.115732940G>C (hg38)
PubMed: PMID:18543230 PMID:21063088 PMID:23861362 PMID:23891399 PMID:24025405 PMID:26671417 PMID:27538377
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732940G>C , CM000663.2:g.115732940G>C GRCh38
NC_000001.10:g.116275561G>C , CM000663.1:g.116275561G>C GRCh37
NC_000001.9:g.116077084G>C NCBI36
NG_008802.1:g.40866C>G , LRG_404:g.40866C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.291C>G ENSP00000518226.1:p.Phe97Leu
ENST00000261448.6:c.567C>G MANE Select ENSP00000261448.5:p.Phe189Leu
ENST00000261448.5:c.567C>G ENSP00000261448.5:p.Phe189Leu
NM_001232.3:c.567C>G , LRG_404t1:c.567C>G NP_001223.2:p.Phe189Leu
NM_001232.4:c.567C>G MANE Select NP_001223.2:p.Phe189Leu
Search 100 bp 5'
Search 100 bp 3'