Canonical Allele Identifier: CA885950364
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1405199828
gnomAD v4: 1-115738197-A-G
MyVariant Identifiers: chr1:g.116280818A>G (hg19) chr1:g.115738197A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738197A>G , CM000663.2:g.115738197A>G GRCh38
NC_000001.10:g.116280818A>G , CM000663.1:g.116280818A>G GRCh37
NC_000001.9:g.116082341A>G NCBI36
NG_008802.1:g.35609T>C , LRG_404:g.35609T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+27T>C ENSP00000518226.1:n.256+27T>C
ENST00000261448.6:c.532+27T>C MANE Select ENSP00000261448.5:n.532+27T>C
ENST00000261448.5:c.532+27T>C ENSP00000261448.5:n.532+27T>C
NM_001232.3:c.532+27T>C , LRG_404t1:c.532+27T>C NP_001223.2:n.532+27T>C
NM_001232.4:c.532+27T>C MANE Select NP_001223.2:n.532+27T>C
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