Canonical Allele Identifier: CA30269195
Gene: HMGCS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452101
ClinVar RCV Id: RCV000522718 RCV000805374
dbSNP Id: rs372079931
gnomAD v2: 1-120293450-C-G
gnomAD v4: 1-119750827-C-G
MyVariant Identifiers: chr1:g.120293450C>G (hg19) chr1:g.119750827C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750827C>G , CM000663.2:g.119750827C>G GRCh38
NC_000001.10:g.120293450C>G , CM000663.1:g.120293450C>G GRCh37
NC_000001.9:g.120094973C>G NCBI36
NG_013348.1:g.23106G>C , LRG_447:g.23106G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.1502G>C MANE Select ENSP00000358414.3:p.Arg501Pro
ENST00000369406.7:c.1502G>C ENSP00000358414.3:p.Arg501Pro
ENST00000544913.2:c.1376G>C ENSP00000439495.2:p.Arg459Pro
NM_001166107.1:c.1376G>C , LRG_447t2:c.1376G>C NP_001159579.1:p.Arg459Pro
NM_005518.3:c.1502G>C , LRG_447t1:c.1502G>C NP_005509.1:p.Arg501Pro
XM_011541313.1:c.1337G>C XP_011539615.1:p.Arg446Pro
XM_011541313.2:c.1337G>C XP_011539615.1:p.Arg446Pro
NM_005518.4:c.1502G>C MANE Select NP_005509.1:p.Arg501Pro
Search 100 bp 5'
Search 100 bp 3'