Canonical Allele Identifier: CA420026311

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1311179686
• gnomAD v2: 1-120302500-C-T
• gnomAD v4: 1-119759877-C-T
• MyVariant Identifiers: chr1:g.120302500C>T (hg19) ; chr1:g.119759877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759877C>T , CM000663.2:g.119759877C>T	GRCh38
NC_000001.10:g.120302500C>T , CM000663.1:g.120302500C>T	GRCh37
NC_000001.9:g.120104023C>T	NCBI36
NG_013348.1:g.14056G>A , LRG_447:g.14056G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.672G>A MANE Select	ENSP00000358414.3:p.Leu224=
ENST00000369406.7:c.672G>A	ENSP00000358414.3:p.Leu224=
ENST00000476640.1:n.568G>A
ENST00000544913.2:c.560-595G>A	ENSP00000439495.2:n.560-595G>A
NM_001166107.1:c.560-595G>A , LRG_447t2:c.560-595G>A	NP_001159579.1:n.560-595G>A
NM_005518.3:c.672G>A , LRG_447t1:c.672G>A	NP_005509.1:p.Leu224=
XM_011541313.1:c.672G>A	XP_011539615.1:p.Leu224=
XM_011541313.2:c.672G>A	XP_011539615.1:p.Leu224=
NM_005518.4:c.672G>A MANE Select	NP_005509.1:p.Leu224=