Canonical Allele Identifier: CA1037828

Gene: HMGCS2

Linked Data

• dbSNP Id: rs760210450
• ExAC: 1:120302489 C / A
• gnomAD v2: 1-120302489-C-A
• MyVariant Identifiers: chr1:g.120302489C>A (hg19) ; chr1:g.119759866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759866C>A , CM000663.2:g.119759866C>A	GRCh38
NC_000001.10:g.120302489C>A , CM000663.1:g.120302489C>A	GRCh37
NC_000001.9:g.120104012C>A	NCBI36
NG_013348.1:g.14067G>T , LRG_447:g.14067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.683G>T MANE Select	ENSP00000358414.3:p.Arg228Leu
ENST00000369406.7:c.683G>T	ENSP00000358414.3:p.Arg228Leu
ENST00000476640.1:n.579G>T
ENST00000544913.2:c.560-584G>T	ENSP00000439495.2:n.560-584G>T
NM_001166107.1:c.560-584G>T , LRG_447t2:c.560-584G>T	NP_001159579.1:n.560-584G>T
NM_005518.3:c.683G>T , LRG_447t1:c.683G>T	NP_005509.1:p.Arg228Leu
XM_011541313.1:c.683G>T	XP_011539615.1:p.Arg228Leu
XM_011541313.2:c.683G>T	XP_011539615.1:p.Arg228Leu
NM_005518.4:c.683G>T MANE Select	NP_005509.1:p.Arg228Leu