Canonical Allele Identifier: CA420178444
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115768449-C-T
MyVariant Identifiers: chr1:g.116311070C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768449C>T , CM000663.2:g.115768449C>T GRCh38
NC_000001.10:g.116311070C>T , CM000663.1:g.116311070C>T GRCh37
NC_000001.9:g.116112593C>T NCBI36
NG_008802.1:g.5357G>A , LRG_404:g.5357G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-184G>A ENSP00000518226.1:n.-184G>A
ENST00000261448.6:c.93G>A MANE Select ENSP00000261448.5:p.Lys31=
ENST00000261448.5:c.93G>A ENSP00000261448.5:p.Lys31=
NM_001232.3:c.93G>A , LRG_404t1:c.93G>A NP_001223.2:p.Lys31=
NM_001232.4:c.93G>A MANE Select NP_001223.2:p.Lys31=
Search 100 bp 5'
Search 100 bp 3'