Canonical Allele Identifier: CA341864207
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119764209-G-T
MyVariant Identifiers: chr1:g.120306832G>T (hg19) chr1:g.119764209G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119764209G>T , CM000663.2:g.119764209G>T GRCh38
NC_000001.10:g.120306832G>T , CM000663.1:g.120306832G>T GRCh37
NC_000001.9:g.120108355G>T NCBI36
NG_013348.1:g.9724C>A , LRG_447:g.9724C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.522C>A MANE Select ENSP00000358414.3:p.Phe174Leu
ENST00000369406.7:c.522C>A ENSP00000358414.3:p.Phe174Leu
ENST00000476640.1:n.418C>A
ENST00000544913.2:c.522C>A ENSP00000439495.2:p.Phe174Leu
NM_001166107.1:c.522C>A , LRG_447t2:c.522C>A NP_001159579.1:p.Phe174Leu
NM_005518.3:c.522C>A , LRG_447t1:c.522C>A NP_005509.1:p.Phe174Leu
XM_011541313.1:c.522C>A XP_011539615.1:p.Phe174Leu
XM_011541313.2:c.522C>A XP_011539615.1:p.Phe174Leu
NM_005518.4:c.522C>A MANE Select NP_005509.1:p.Phe174Leu
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Search 100 bp 3'