Canonical Allele Identifier: CA1037558

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 292329
• ClinVar RCV Id: RCV000284565
• dbSNP Id: rs771878586
• ExAC: 1:120295159 A / G
• gnomAD v2: 1-120295159-A-G
• gnomAD v3: 1-119752536-A-G
• gnomAD v4: 1-119752536-A-G
• MyVariant Identifiers: chr1:g.120295159A>G (hg19) ; chr1:g.119752536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119752536A>G , CM000663.2:g.119752536A>G	GRCh38
NC_000001.10:g.120295159A>G , CM000663.1:g.120295159A>G	GRCh37
NC_000001.9:g.120096682A>G	NCBI36
NG_013348.1:g.21397T>C , LRG_447:g.21397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1420+13T>C MANE Select	ENSP00000358414.3:n.1420+13T>C
ENST00000369406.7:c.1420+13T>C	ENSP00000358414.3:n.1420+13T>C
ENST00000544913.2:c.1294+13T>C	ENSP00000439495.2:n.1294+13T>C
NM_001166107.1:c.1294+13T>C , LRG_447t2:c.1294+13T>C	NP_001159579.1:n.1294+13T>C
NM_005518.3:c.1420+13T>C , LRG_447t1:c.1420+13T>C	NP_005509.1:n.1420+13T>C
XM_011541313.1:c.1255+13T>C	XP_011539615.1:n.1255+13T>C
XM_011541313.2:c.1255+13T>C	XP_011539615.1:n.1255+13T>C
NM_005518.4:c.1420+13T>C MANE Select	NP_005509.1:n.1420+13T>C