Canonical Allele Identifier: CA29640137
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs763144030
MyVariant Identifiers: chr1:g.116275368T>C (hg19) chr1:g.115732747T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732747T>C , CM000663.2:g.115732747T>C GRCh38
NC_000001.10:g.116275368T>C , CM000663.1:g.116275368T>C GRCh37
NC_000001.9:g.116076891T>C NCBI36
NG_008802.1:g.41059A>G , LRG_404:g.41059A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.330+154A>G ENSP00000518226.1:n.330+154A>G
ENST00000261448.6:c.606+154A>G MANE Select ENSP00000261448.5:n.606+154A>G
ENST00000261448.5:c.606+154A>G ENSP00000261448.5:n.606+154A>G
ENST00000488931.1:n.27+154A>G
NM_001232.3:c.606+154A>G , LRG_404t1:c.606+154A>G NP_001223.2:n.606+154A>G
NM_001232.4:c.606+154A>G MANE Select NP_001223.2:n.606+154A>G
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