Canonical Allele Identifier: CA1023702
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115705238T>C
GRCh37 chr1:g.116247859T>C
Revel Score:
ENST00000261448 (MANE Select) 0.451
ENST00000456138 0.451
ENST00000446755 0.451
gnomAD v2:
1:116247859 T / C
gnomAD v3:
1:115705238 T / C
gnomAD v4:
chr1-115705238-T-C
Joint Max Group AF 0.00018824 (EAS)
Genomes Max Group AF 0.0003803 (EAS)
Exomes Max Group AF 0.00011816 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705238T>C , CM000663.2:g.115705238T>C GRCh38
NC_000001.10:g.116247859T>C , CM000663.1:g.116247859T>C GRCh37
NC_000001.9:g.116049382T>C NCBI36
NG_008802.1:g.68568A>G , LRG_404:g.68568A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*265A>G ENSP00000518226.1:n.*265A>G
ENST00000261448.6:c.893A>G MANE Select ENSP00000261448.5:p.Asn298Ser
ENST00000261448.5:c.893A>G ENSP00000261448.5:p.Asn298Ser
NM_001232.3:c.893A>G , LRG_404t1:c.893A>G NP_001223.2:p.Asn298Ser
NM_001232.4:c.893A>G MANE Select NP_001223.2:p.Asn298Ser
Search 100 bp 5'
Search 100 bp 3'