Canonical Allele Identifier: CA175355
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115705203C>T
GRCh37 chr1:g.116247824C>T
Revel Score:
ENST00000261448 (MANE Select) 0.385
ENST00000456138 0.385
ENST00000446755 0.385
gnomAD v2:
1:116247824 C / T
gnomAD v3:
1:115705203 C / T
gnomAD v4:
chr1-115705203-C-T
Joint Max Group AF 0.00246092 (MID)
Genomes Max Group AF 0.00034218 (NFE)
Exomes Max Group AF 0.00258693 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705203C>T , CM000663.2:g.115705203C>T GRCh38
NC_000001.10:g.116247824C>T , CM000663.1:g.116247824C>T GRCh37
NC_000001.9:g.116049347C>T NCBI36
NG_008802.1:g.68603G>A , LRG_404:g.68603G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*300G>A ENSP00000518226.1:n.*300G>A
ENST00000261448.6:c.928G>A MANE Select ENSP00000261448.5:p.Asp310Asn
ENST00000261448.5:c.928G>A ENSP00000261448.5:p.Asp310Asn
NM_001232.3:c.928G>A , LRG_404t1:c.928G>A NP_001223.2:p.Asp310Asn
NM_001232.4:c.928G>A MANE Select NP_001223.2:p.Asp310Asn
Search 100 bp 5'
Search 100 bp 3'