Canonical Allele Identifier: CA1023611
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115701307A>T
GRCh38 chr1:g.115701307_115701310delinsTTCT
GRCh37 chr1:g.116243928A>T
GRCh37 chr1:g.116243928_116243931delinsTTCT
Revel Score:
ENST00000261448 (MANE Select) 0.060
ENST00000456138 0.060
ENST00000446755 0.060
gnomAD v2:
1:116243928 A / T
gnomAD v3:
1:115701307 A / T
gnomAD v4:
chr1-115701307-A-T
Joint Max Group AF 0.00002563 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00001005 (AFR)
ClinVar RCV:
RCV000219232
RCV002517467
ClinVar Variation:
227209
dbSNP:
150486780
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701307A>T , CM000663.2:g.115701307A>T GRCh38
NC_000001.10:g.116243928A>T , CM000663.1:g.116243928A>T GRCh37
NC_000001.9:g.116045451A>T NCBI36
NG_008802.1:g.72499T>A , LRG_404:g.72499T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*506T>A ENSP00000518226.1:n.*506T>A
ENST00000261448.6:c.1134T>A MANE Select ENSP00000261448.5:p.Asp378Glu
ENST00000261448.5:c.1134T>A ENSP00000261448.5:p.Asp378Glu
NM_001232.3:c.1134T>A , LRG_404t1:c.1134T>A NP_001223.2:p.Asp378Glu
NM_001232.4:c.1134T>A MANE Select NP_001223.2:p.Asp378Glu
Search 100 bp 5'
Search 100 bp 3'