Canonical Allele Identifier: CA1037747
Gene: HMGCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119757427G>A
GRCh37 chr1:g.120300050G>A
gnomAD v2:
1:120300050 G / A
gnomAD v3:
1:119757427 G / A
gnomAD v4:
chr1-119757427-G-A
Joint Max Group AF 0.00001747 (AFR)
Genomes Max Group AF 0.00001921 (AFR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV000369998
RCV001543155
ClinVar Variation:
280473
dbSNP:
142637231
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119757427G>A , CM000663.2:g.119757427G>A GRCh38
NC_000001.10:g.120300050G>A , CM000663.1:g.120300050G>A GRCh37
NC_000001.9:g.120101573G>A NCBI36
NG_013348.1:g.16506C>T , LRG_447:g.16506C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.862C>T MANE Select ENSP00000358414.3:p.Arg288Ter
ENST00000369406.7:c.862C>T ENSP00000358414.3:p.Arg288Ter
ENST00000472375.5:n.309C>T
ENST00000476640.1:n.593C>T
ENST00000544913.2:c.736C>T ENSP00000439495.2:p.Arg246Ter
NM_001166107.1:c.736C>T , LRG_447t2:c.736C>T NP_001159579.1:p.Arg246Ter
NM_005518.3:c.862C>T , LRG_447t1:c.862C>T NP_005509.1:p.Arg288Ter
XM_011541313.1:c.697C>T XP_011539615.1:p.Arg233Ter
XM_011541313.2:c.697C>T XP_011539615.1:p.Arg233Ter
NM_005518.4:c.862C>T MANE Select NP_005509.1:p.Arg288Ter
Search 100 bp 5'
Search 100 bp 3'