Canonical Allele Identifier: CA1037851
Gene: HMGCS2 HGNC NCBI

Linked Data

dbSNP Id: rs780265364
ExAC: 1:120302613 CT / C
gnomAD v2: 1-120302613-CT-C
gnomAD v4: 1-119759990-CT-C
MyVariant Identifiers: chr1:g.120302614del (hg19) chr1:g.119759991del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759991del , CM000663.2:g.119759991del GRCh38
NC_000001.10:g.120302614del , CM000663.1:g.120302614del GRCh37
NC_000001.9:g.120104137del NCBI36
NG_013348.1:g.13942del , LRG_447:g.13942del

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.560-2del MANE Select ENSP00000358414.3:n.560-2del
ENST00000369406.7:c.560-2del ENSP00000358414.3:n.560-2del
ENST00000476640.1:n.456-2del
ENST00000544913.2:c.560-709del ENSP00000439495.2:n.560-709del
NM_001166107.1:c.560-709del , LRG_447t2:c.560-709del NP_001159579.1:n.560-709del
NM_005518.3:c.560-2del , LRG_447t1:c.560-2del NP_005509.1:n.560-2del
XM_011541313.1:c.560-2del XP_011539615.1:n.560-2del
XM_011541313.2:c.560-2del XP_011539615.1:n.560-2del
NM_005518.4:c.560-2del MANE Select NP_005509.1:n.560-2del
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Search 100 bp 3'