Canonical Allele Identifier: CA885948374
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs539426158
gnomAD v3: 1-115732727-T-G
gnomAD v4: 1-115732727-T-G
MyVariant Identifiers: chr1:g.116275348T>G (hg19) chr1:g.115732727T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732727T>G , CM000663.2:g.115732727T>G GRCh38
NC_000001.10:g.116275348T>G , CM000663.1:g.116275348T>G GRCh37
NC_000001.9:g.116076871T>G NCBI36
NG_008802.1:g.41079A>C , LRG_404:g.41079A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+174A>C ENSP00000518226.1:n.330+174A>C
ENST00000261448.6:c.606+174A>C MANE Select ENSP00000261448.5:n.606+174A>C
ENST00000261448.5:c.606+174A>C ENSP00000261448.5:n.606+174A>C
ENST00000488931.1:n.27+174A>C
NM_001232.3:c.606+174A>C , LRG_404t1:c.606+174A>C NP_001223.2:n.606+174A>C
NM_001232.4:c.606+174A>C MANE Select NP_001223.2:n.606+174A>C
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