Canonical Allele Identifier: CA1037945

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 292340
• ClinVar RCV Id: RCV000372694 ; RCV000437286 ; RCV000970538
• dbSNP Id: rs138739620
• ExAC: 1:120307180 G / A
• gnomAD v2: 1-120307180-G-A
• gnomAD v3: 1-119764557-G-A
• gnomAD v4: 1-119764557-G-A
• MyVariant Identifiers: chr1:g.120307180G>A (hg19) ; chr1:g.119764557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119764557G>A , CM000663.2:g.119764557G>A	GRCh38
NC_000001.10:g.120307180G>A , CM000663.1:g.120307180G>A	GRCh37
NC_000001.9:g.120108703G>A	NCBI36
NG_013348.1:g.9376C>T , LRG_447:g.9376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.174C>T MANE Select	ENSP00000358414.3:p.Ala58=
ENST00000369406.7:c.174C>T	ENSP00000358414.3:p.Ala58=
ENST00000476640.1:n.70C>T
ENST00000544913.2:c.174C>T	ENSP00000439495.2:p.Ala58=
NM_001166107.1:c.174C>T , LRG_447t2:c.174C>T	NP_001159579.1:p.Ala58=
NM_005518.3:c.174C>T , LRG_447t1:c.174C>T	NP_005509.1:p.Ala58=
XM_011541313.1:c.174C>T	XP_011539615.1:p.Ala58=
XM_011541313.2:c.174C>T	XP_011539615.1:p.Ala58=
NM_005518.4:c.174C>T MANE Select	NP_005509.1:p.Ala58=