Canonical Allele Identifier: CA341767862
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115717869A>T
GRCh37 chr1:g.116260490A>T
Revel Score:
ENST00000261448 (MANE Select) 0.777
ENST00000456138 0.777
gnomAD v4:
chr1-115717869-A-T
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*181T>A ENSP00000518226.1:n.*181T>A
ENST00000261448.6:c.809T>A MANE Select ENSP00000261448.5:p.Ile270Asn
ENST00000261448.5:c.809T>A ENSP00000261448.5:p.Ile270Asn
NM_001232.3:c.809T>A , LRG_404t1:c.809T>A NP_001223.2:p.Ile270Asn
NM_001232.4:c.809T>A MANE Select NP_001223.2:p.Ile270Asn
Search 100 bp 5'
Search 100 bp 3'