Canonical Allele Identifier: CA341769053
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1647838367
gnomAD v3: 1-115732957-C-G
gnomAD v4: 1-115732957-C-G
MyVariant Identifiers: chr1:g.116275578C>G (hg19) chr1:g.115732957C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732957C>G , CM000663.2:g.115732957C>G GRCh38
NC_000001.10:g.116275578C>G , CM000663.1:g.116275578C>G GRCh37
NC_000001.9:g.116077101C>G NCBI36
NG_008802.1:g.40849G>C , LRG_404:g.40849G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.274G>C ENSP00000518226.1:p.Glu92Gln
ENST00000261448.6:c.550G>C MANE Select ENSP00000261448.5:p.Glu184Gln
ENST00000261448.5:c.550G>C ENSP00000261448.5:p.Glu184Gln
NM_001232.3:c.550G>C , LRG_404t1:c.550G>C NP_001223.2:p.Glu184Gln
NM_001232.4:c.550G>C MANE Select NP_001223.2:p.Glu184Gln
Search 100 bp 5'
Search 100 bp 3'