Canonical Allele Identifier: CA341767452
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1303305
ClinVar RCV Id: RCV001757860
dbSNP Id: rs1649206958
gnomAD v4: 1-115768529-G-C
MyVariant Identifiers: chr1:g.116311150G>C (hg19) chr1:g.115768529G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768529G>C , CM000663.2:g.115768529G>C GRCh38
NC_000001.10:g.116311150G>C , CM000663.1:g.116311150G>C GRCh37
NC_000001.9:g.116112673G>C NCBI36
NG_008802.1:g.5277C>G , LRG_404:g.5277C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-41C>G ENSP00000518226.1:n.-223-41C>G
ENST00000261448.6:c.13C>G MANE Select ENSP00000261448.5:p.His5Asp
ENST00000261448.5:c.13C>G ENSP00000261448.5:p.His5Asp
NM_001232.3:c.13C>G , LRG_404t1:c.13C>G NP_001223.2:p.His5Asp
NM_001232.4:c.13C>G MANE Select NP_001223.2:p.His5Asp
Search 100 bp 5'
Search 100 bp 3'