Canonical Allele Identifier: CA120256
Gene: HMGCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119759915C>T
GRCh37 chr1:g.120302538C>T
Revel Score:
ENST00000369406 (MANE Select) 0.984
gnomAD v2:
1:120302538 C / T
gnomAD v3:
1:119759915 C / T
gnomAD v4:
chr1-119759915-C-T
Joint Max Group AF 0.0002875 (NFE)
Genomes Max Group AF 0.0003422 (NFE)
Exomes Max Group AF 0.00027804 (NFE)
ClinVar Allele:
24298
ClinVar RCV:
RCV000009841
RCV000498667
ClinVar Variation:
9259
dbSNP:
137852638
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759915C>T , CM000663.2:g.119759915C>T GRCh38
NC_000001.10:g.120302538C>T , CM000663.1:g.120302538C>T GRCh37
NC_000001.9:g.120104061C>T NCBI36
NG_013348.1:g.14018G>A , LRG_447:g.14018G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.634G>A MANE Select ENSP00000358414.3:p.Gly212Arg
ENST00000369406.7:c.634G>A ENSP00000358414.3:p.Gly212Arg
ENST00000476640.1:n.530G>A
ENST00000544913.2:c.560-633G>A ENSP00000439495.2:n.560-633G>A
NM_001166107.1:c.560-633G>A , LRG_447t2:c.560-633G>A NP_001159579.1:n.560-633G>A
NM_005518.3:c.634G>A , LRG_447t1:c.634G>A NP_005509.1:p.Gly212Arg
XM_011541313.1:c.634G>A XP_011539615.1:p.Gly212Arg
XM_011541313.2:c.634G>A XP_011539615.1:p.Gly212Arg
NM_005518.4:c.634G>A MANE Select NP_005509.1:p.Gly212Arg
Search 100 bp 5'
Search 100 bp 3'