Canonical Allele Identifier: CA312651
Gene: HMGCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119759862A>T
GRCh37 chr1:g.120302485A>T
gnomAD v3:
1:119759862 A / T
gnomAD v4:
chr1-119759862-A-T
Joint Max Group AF 0.00004284 (AMR)
Genomes Max Group AF 0.00008883 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV000185974
RCV003509509
ClinVar Variation:
203781
dbSNP:
796051979
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759862A>T , CM000663.2:g.119759862A>T GRCh38
NC_000001.10:g.120302485A>T , CM000663.1:g.120302485A>T GRCh37
NC_000001.9:g.120104008A>T NCBI36
NG_013348.1:g.14071T>A , LRG_447:g.14071T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.685+2T>A MANE Select ENSP00000358414.3:n.685+2T>A
ENST00000369406.7:c.685+2T>A ENSP00000358414.3:n.685+2T>A
ENST00000476640.1:n.581+2T>A
ENST00000544913.2:c.560-580T>A ENSP00000439495.2:n.560-580T>A
NM_001166107.1:c.560-580T>A , LRG_447t2:c.560-580T>A NP_001159579.1:n.560-580T>A
NM_005518.3:c.685+2T>A , LRG_447t1:c.685+2T>A NP_005509.1:n.685+2T>A
XM_011541313.1:c.685+2T>A XP_011539615.1:n.685+2T>A
XM_011541313.2:c.685+2T>A XP_011539615.1:n.685+2T>A
NM_005518.4:c.685+2T>A MANE Select NP_005509.1:n.685+2T>A
Search 100 bp 5'
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