Canonical Allele Identifier: CA301904
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115717869A>G
GRCh37 chr1:g.116260490A>G
Revel Score:
ENST00000261448 (MANE Select) 0.785
ENST00000456138 0.785
gnomAD v2:
1:116260490 A / G
gnomAD v4:
chr1-115717869-A-G
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000195 (NFE)
ClinVar RCV:
RCV000170892
RCV003103739
ClinVar Variation:
190745
dbSNP:
762381137
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115717869A>G , CM000663.2:g.115717869A>G GRCh38
NC_000001.10:g.116260490A>G , CM000663.1:g.116260490A>G GRCh37
NC_000001.9:g.116062013A>G NCBI36
NG_008802.1:g.55937T>C , LRG_404:g.55937T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*181T>C ENSP00000518226.1:n.*181T>C
ENST00000261448.6:c.809T>C MANE Select ENSP00000261448.5:p.Ile270Thr
ENST00000261448.5:c.809T>C ENSP00000261448.5:p.Ile270Thr
NM_001232.3:c.809T>C , LRG_404t1:c.809T>C NP_001223.2:p.Ile270Thr
NM_001232.4:c.809T>C MANE Select NP_001223.2:p.Ile270Thr
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