Canonical Allele Identifier: CA1192440268
Gene: HMGCS2 HGNC NCBI

Linked Data

dbSNP Id: rs1557988769
gnomAD v4: 1-119753263-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119753263A>G , CM000663.2:g.119753263A>G GRCh38
NC_000001.10:g.120295886A>G , CM000663.1:g.120295886A>G GRCh37
NC_000001.9:g.120097409A>G NCBI36
NG_013348.1:g.20670T>C , LRG_447:g.20670T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1294+17T>C MANE Select ENSP00000358414.3:n.1294+17T>C
ENST00000369406.7:c.1294+17T>C ENSP00000358414.3:n.1294+17T>C
ENST00000544913.2:c.1168+17T>C ENSP00000439495.2:n.1168+17T>C
NM_001166107.1:c.1168+17T>C , LRG_447t2:c.1168+17T>C NP_001159579.1:n.1168+17T>C
NM_005518.3:c.1294+17T>C , LRG_447t1:c.1294+17T>C NP_005509.1:n.1294+17T>C
XM_011541313.1:c.1129+17T>C XP_011539615.1:n.1129+17T>C
XM_011541313.2:c.1129+17T>C XP_011539615.1:n.1129+17T>C
NM_005518.4:c.1294+17T>C MANE Select NP_005509.1:n.1294+17T>C
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