Canonical Allele Identifier: CA175358
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115705208G>T
GRCh37 chr1:g.116247829G>T
Revel Score:
ENST00000261448 (MANE Select) 0.761
ENST00000456138 0.761
ENST00000446755 0.761
gnomAD v2:
1:116247829 G / T
gnomAD v3:
1:115705208 G / T
gnomAD v4:
chr1-115705208-G-T
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar RCV:
RCV000150221
RCV002516016
ClinVar Variation:
162811
dbSNP:
139228801
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705208G>T , CM000663.2:g.115705208G>T GRCh38
NC_000001.10:g.116247829G>T , CM000663.1:g.116247829G>T GRCh37
NC_000001.9:g.116049352G>T NCBI36
NG_008802.1:g.68598C>A , LRG_404:g.68598C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*295C>A ENSP00000518226.1:n.*295C>A
ENST00000261448.6:c.923C>A MANE Select ENSP00000261448.5:p.Pro308Gln
ENST00000261448.5:c.923C>A ENSP00000261448.5:p.Pro308Gln
NM_001232.3:c.923C>A , LRG_404t1:c.923C>A NP_001223.2:p.Pro308Gln
NM_001232.4:c.923C>A MANE Select NP_001223.2:p.Pro308Gln
Search 100 bp 5'
Search 100 bp 3'