Canonical Allele Identifier: CA2647400617
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119759891-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759894del , CM000663.2:g.119759894del GRCh38
NC_000001.10:g.120302517del , CM000663.1:g.120302517del GRCh37
NC_000001.9:g.120104040del NCBI36
NG_013348.1:g.14041del , LRG_447:g.14041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.657del MANE Select ENSP00000358414.3:p.Lys221ArgfsTer10
ENST00000369406.7:c.657del ENSP00000358414.3:p.Lys221ArgfsTer10
ENST00000476640.1:n.553del
ENST00000544913.2:c.560-610del ENSP00000439495.2:n.560-610del
NM_001166107.1:c.560-610del , LRG_447t2:c.560-610del NP_001159579.1:n.560-610del
NM_005518.3:c.657del , LRG_447t1:c.657del NP_005509.1:p.Lys221ArgfsTer10
XM_011541313.1:c.657del XP_011539615.1:p.Lys221ArgfsTer23
XM_011541313.2:c.657del XP_011539615.1:p.Lys221ArgfsTer23
NM_005518.4:c.657del MANE Select NP_005509.1:p.Lys221ArgfsTer10
Search 100 bp 5'
Search 100 bp 3'