Canonical Allele Identifier: CA301922
Gene: CASQ2 HGNC NCBI
ClinVar RCV:
RCV000170899
ClinVar Variation:
68878
COSMIC:
COSM108103
dbSNP:
147941846
MyVariant.info:
GRCh38 chr1:g.115768448C>T
GRCh37 chr1:g.116311069C>T
Revel Score:
ENST00000261448 (MANE Select) 0.657
ENST00000456138 0.657
ENST00000446755 0.657
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768448C>T , CM000663.2:g.115768448C>T GRCh38
NC_000001.10:g.116311069C>T , CM000663.1:g.116311069C>T GRCh37
NC_000001.9:g.116112592C>T NCBI36
NG_008802.1:g.5358G>A , LRG_404:g.5358G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-183G>A ENSP00000518226.1:n.-183G>A
ENST00000261448.6:c.94G>A MANE Select ENSP00000261448.5:p.Asp32Asn
ENST00000261448.5:c.94G>A ENSP00000261448.5:p.Asp32Asn
NM_001232.3:c.94G>A , LRG_404t1:c.94G>A NP_001223.2:p.Asp32Asn
NM_001232.4:c.94G>A MANE Select NP_001223.2:p.Asp32Asn
Search 100 bp 5'
Search 100 bp 3'