Allele Registry

Canonical Allele Identifier: CA175364

Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000150224

RCV000171562

RCV000415704

RCV000617394

RCV000723880

RCV000852589

RCV000999608

RCV002516017

RCV003945182

ClinVar Variation:

162814

COSMIC:

COSM3385060

dbSNP:

146664754

gnomAD v2:

1:116275561 G / C

gnomAD v3:

1:115732940 G / C

gnomAD v4:

chr1-115732940-G-C

Joint Max Group AF 0.0008951 (MID)

Genomes Max Group AF 0.00049455 (NFE)

Exomes Max Group AF 0.00094072 (MID)

MyVariant.info:

GRCh38 chr1:g.115732940G>C

GRCh37 chr1:g.116275561G>C

Revel Score:

ENST00000261448 (MANE Select) 0.699

ENST00000456138 0.699

ENST00000446755 0.699

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

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