Canonical Allele Identifier: CA175352
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115701310T>A
GRCh38 chr1:g.115701310_115701313delinsATCA
GRCh37 chr1:g.116243931T>A
GRCh37 chr1:g.116243931_116243934delinsATCA
Revel Score:
ENST00000261448 (MANE Select) 0.028
ENST00000456138 0.028
ENST00000446755 0.028
gnomAD v2:
1:116243931 T / A
gnomAD v3:
1:115701310 T / A
gnomAD v4:
chr1-115701310-T-A
Joint Max Group AF 0.00065266 (AFR)
Genomes Max Group AF 0.00081039 (AFR)
Exomes Max Group AF 0.00032756 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701310T>A , CM000663.2:g.115701310T>A GRCh38
NC_000001.10:g.116243931T>A , CM000663.1:g.116243931T>A GRCh37
NC_000001.9:g.116045454T>A NCBI36
NG_008802.1:g.72496A>T , LRG_404:g.72496A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*503A>T ENSP00000518226.1:n.*503A>T
ENST00000261448.6:c.1131A>T MANE Select ENSP00000261448.5:p.Glu377Asp
ENST00000261448.5:c.1131A>T ENSP00000261448.5:p.Glu377Asp
NM_001232.3:c.1131A>T , LRG_404t1:c.1131A>T NP_001223.2:p.Glu377Asp
NM_001232.4:c.1131A>T MANE Select NP_001223.2:p.Glu377Asp
Search 100 bp 5'
Search 100 bp 3'