Canonical Allele Identifier: CA236665
Gene: CASQ2 HGNC NCBI
COSMIC:
COSM894351 (not active)
MyVariant.info:
GRCh38 chr1:g.115701255C>T
GRCh37 chr1:g.116243876C>T
Revel Score:
ENST00000261448 (MANE Select) 0.139
ENST00000456138 0.139
ENST00000446755 0.139
gnomAD v2:
1:116243876 C / T
gnomAD v3:
1:115701255 C / T
gnomAD v4:
chr1-115701255-C-T
Joint Max Group AF 0.00005536 (NFE)
Genomes Max Group AF 0.00004819 (NFE)
Exomes Max Group AF 0.00005312 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701255C>T , CM000663.2:g.115701255C>T GRCh38
NC_000001.10:g.116243876C>T , CM000663.1:g.116243876C>T GRCh37
NC_000001.9:g.116045399C>T NCBI36
NG_008802.1:g.72551G>A , LRG_404:g.72551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*558G>A ENSP00000518226.1:n.*558G>A
ENST00000261448.6:c.1186G>A MANE Select ENSP00000261448.5:p.Asp396Asn
ENST00000261448.5:c.1186G>A ENSP00000261448.5:p.Asp396Asn
NM_001232.3:c.1186G>A , LRG_404t1:c.1186G>A NP_001223.2:p.Asp396Asn
NM_001232.4:c.1186G>A MANE Select NP_001223.2:p.Asp396Asn
Search 100 bp 5'
Search 100 bp 3'