Canonical Allele Identifier: CA420178488
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768515-C-T
MyVariant Identifiers: chr1:g.116311136C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768515C>T , CM000663.2:g.115768515C>T GRCh38
NC_000001.10:g.116311136C>T , CM000663.1:g.116311136C>T GRCh37
NC_000001.9:g.116112659C>T NCBI36
NG_008802.1:g.5291G>A , LRG_404:g.5291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-27G>A ENSP00000518226.1:n.-223-27G>A
ENST00000261448.6:c.27G>A MANE Select ENSP00000261448.5:p.Val9=
ENST00000261448.5:c.27G>A ENSP00000261448.5:p.Val9=
NM_001232.3:c.27G>A , LRG_404t1:c.27G>A NP_001223.2:p.Val9=
NM_001232.4:c.27G>A MANE Select NP_001223.2:p.Val9=
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