Canonical Allele Identifier: CA1037834
Gene: HMGCS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2240505
ClinVar RCV Id: RCV002742287 RCV003992724
dbSNP Id: rs146945061
ExAC: 1:120302528 G / A
gnomAD v2: 1-120302528-G-A
gnomAD v3: 1-119759905-G-A
gnomAD v4: 1-119759905-G-A
MyVariant Identifiers: chr1:g.120302528G>A (hg19) chr1:g.119759905G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759905G>A , CM000663.2:g.119759905G>A GRCh38
NC_000001.10:g.120302528G>A , CM000663.1:g.120302528G>A GRCh37
NC_000001.9:g.120104051G>A NCBI36
NG_013348.1:g.14028C>T , LRG_447:g.14028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.644C>T MANE Select ENSP00000358414.3:p.Ala215Val
ENST00000369406.7:c.644C>T ENSP00000358414.3:p.Ala215Val
ENST00000476640.1:n.540C>T
ENST00000544913.2:c.560-623C>T ENSP00000439495.2:n.560-623C>T
NM_001166107.1:c.560-623C>T , LRG_447t2:c.560-623C>T NP_001159579.1:n.560-623C>T
NM_005518.3:c.644C>T , LRG_447t1:c.644C>T NP_005509.1:p.Ala215Val
XM_011541313.1:c.644C>T XP_011539615.1:p.Ala215Val
XM_011541313.2:c.644C>T XP_011539615.1:p.Ala215Val
NM_005518.4:c.644C>T MANE Select NP_005509.1:p.Ala215Val
Search 100 bp 5'
Search 100 bp 3'