Canonical Allele Identifier: CA341862824

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1485974535
• gnomAD v2: 1-120302510-T-C
• gnomAD v4: 1-119759887-T-C
• MyVariant Identifiers: chr1:g.120302510T>C (hg19) ; chr1:g.119759887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759887T>C , CM000663.2:g.119759887T>C	GRCh38
NC_000001.10:g.120302510T>C , CM000663.1:g.120302510T>C	GRCh37
NC_000001.9:g.120104033T>C	NCBI36
NG_013348.1:g.14046A>G , LRG_447:g.14046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.662A>G MANE Select	ENSP00000358414.3:p.Lys221Arg
ENST00000369406.7:c.662A>G	ENSP00000358414.3:p.Lys221Arg
ENST00000476640.1:n.558A>G
ENST00000544913.2:c.560-605A>G	ENSP00000439495.2:n.560-605A>G
NM_001166107.1:c.560-605A>G , LRG_447t2:c.560-605A>G	NP_001159579.1:n.560-605A>G
NM_005518.3:c.662A>G , LRG_447t1:c.662A>G	NP_005509.1:p.Lys221Arg
XM_011541313.1:c.662A>G	XP_011539615.1:p.Lys221Arg
XM_011541313.2:c.662A>G	XP_011539615.1:p.Lys221Arg
NM_005518.4:c.662A>G MANE Select	NP_005509.1:p.Lys221Arg