Canonical Allele Identifier: CA341857988

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1652723182
• MyVariant Identifiers: chr1:g.120295929A>T (hg19) ; chr1:g.119753306A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753306A>T , CM000663.2:g.119753306A>T	GRCh38
NC_000001.10:g.120295929A>T , CM000663.1:g.120295929A>T	GRCh37
NC_000001.9:g.120097452A>T	NCBI36
NG_013348.1:g.20627T>A , LRG_447:g.20627T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1268T>A MANE Select	ENSP00000358414.3:p.Phe423Tyr
ENST00000369406.7:c.1268T>A	ENSP00000358414.3:p.Phe423Tyr
ENST00000544913.2:c.1142T>A	ENSP00000439495.2:p.Phe381Tyr
NM_001166107.1:c.1142T>A , LRG_447t2:c.1142T>A	NP_001159579.1:p.Phe381Tyr
NM_005518.3:c.1268T>A , LRG_447t1:c.1268T>A	NP_005509.1:p.Phe423Tyr
XM_011541313.1:c.1103T>A	XP_011539615.1:p.Phe368Tyr
XM_011541313.2:c.1103T>A	XP_011539615.1:p.Phe368Tyr
NM_005518.4:c.1268T>A MANE Select	NP_005509.1:p.Phe423Tyr