Canonical Allele Identifier: CA525754230

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1363875921
• gnomAD v2: 1-120302323-C-G
• gnomAD v3: 1-119759700-C-G
• gnomAD v4: 1-119759700-C-G
• MyVariant Identifiers: chr1:g.120302323C>G (hg19) ; chr1:g.119759700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759700C>G , CM000663.2:g.119759700C>G	GRCh38
NC_000001.10:g.120302323C>G , CM000663.1:g.120302323C>G	GRCh37
NC_000001.9:g.120103846C>G	NCBI36
NG_013348.1:g.14233G>C , LRG_447:g.14233G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+164G>C MANE Select	ENSP00000358414.3:n.685+164G>C
ENST00000369406.7:c.685+164G>C	ENSP00000358414.3:n.685+164G>C
ENST00000476640.1:n.581+164G>C
ENST00000544913.2:c.560-418G>C	ENSP00000439495.2:n.560-418G>C
NM_001166107.1:c.560-418G>C , LRG_447t2:c.560-418G>C	NP_001159579.1:n.560-418G>C
NM_005518.3:c.685+164G>C , LRG_447t1:c.685+164G>C	NP_005509.1:n.685+164G>C
XM_011541313.1:c.685+164G>C	XP_011539615.1:n.685+164G>C
XM_011541313.2:c.685+164G>C	XP_011539615.1:n.685+164G>C
NM_005518.4:c.685+164G>C MANE Select	NP_005509.1:n.685+164G>C