Canonical Allele Identifier: CA1037848
Gene: HMGCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119759979G>A
GRCh37 chr1:g.120302602G>A
gnomAD v2:
1:120302602 G / A
gnomAD v3:
1:119759979 G / A
gnomAD v4:
chr1-119759979-G-A
Joint Max Group AF 0.00023669 (NFE)
Genomes Max Group AF 0.00032958 (NFE)
Exomes Max Group AF 0.00022502 (NFE)
ClinVar RCV:
RCV000428846
RCV000888818
ClinVar Variation:
389052
dbSNP:
201735169
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759979G>A , CM000663.2:g.119759979G>A GRCh38
NC_000001.10:g.120302602G>A , CM000663.1:g.120302602G>A GRCh37
NC_000001.9:g.120104125G>A NCBI36
NG_013348.1:g.13954C>T , LRG_447:g.13954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.570C>T MANE Select ENSP00000358414.3:p.Ala190=
ENST00000369406.7:c.570C>T ENSP00000358414.3:p.Ala190=
ENST00000476640.1:n.466C>T
ENST00000544913.2:c.560-697C>T ENSP00000439495.2:n.560-697C>T
NM_001166107.1:c.560-697C>T , LRG_447t2:c.560-697C>T NP_001159579.1:n.560-697C>T
NM_005518.3:c.570C>T , LRG_447t1:c.570C>T NP_005509.1:p.Ala190=
XM_011541313.1:c.570C>T XP_011539615.1:p.Ala190=
XM_011541313.2:c.570C>T XP_011539615.1:p.Ala190=
NM_005518.4:c.570C>T MANE Select NP_005509.1:p.Ala190=
Search 100 bp 5'
Search 100 bp 3'