Canonical Allele Identifier: CA133693
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115701293T>C
GRCh37 chr1:g.116243914T>C
Revel Score:
ENST00000261448 (MANE Select) 0.125
ENST00000456138 0.125
ENST00000446755 0.125
gnomAD v2:
1:116243914 T / C
gnomAD v3:
1:115701293 T / C
gnomAD v4:
chr1-115701293-T-C
Joint Max Group AF 0.00008348 (NFE)
Genomes Max Group AF 0.00008888 (AMR)
Exomes Max Group AF 0.00008509 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701293T>C , CM000663.2:g.115701293T>C GRCh38
NC_000001.10:g.116243914T>C , CM000663.1:g.116243914T>C GRCh37
NC_000001.9:g.116045437T>C NCBI36
NG_008802.1:g.72513A>G , LRG_404:g.72513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*520A>G ENSP00000518226.1:n.*520A>G
ENST00000261448.6:c.1148A>G MANE Select ENSP00000261448.5:p.Asp383Gly
ENST00000261448.5:c.1148A>G ENSP00000261448.5:p.Asp383Gly
NM_001232.3:c.1148A>G , LRG_404t1:c.1148A>G NP_001223.2:p.Asp383Gly
NM_001232.4:c.1148A>G MANE Select NP_001223.2:p.Asp383Gly
Search 100 bp 5'
Search 100 bp 3'