Canonical Allele Identifier: CA1037715
Gene: HMGCS2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119757272C>T
GRCh37 chr1:g.120299895C>T
gnomAD v2:
1:120299895 C / T
gnomAD v3:
1:119757272 C / T
gnomAD v4:
chr1-119757272-C-T
Joint Max Group AF 0.00005192 (NFE)
Genomes Max Group AF 0.00006803 (NFE)
Exomes Max Group AF 0.00004786 (NFE)
ClinVar RCV:
RCV001994741
ClinVar Variation:
1453176
dbSNP:
771607178
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119757272C>T , CM000663.2:g.119757272C>T GRCh38
NC_000001.10:g.120299895C>T , CM000663.1:g.120299895C>T GRCh37
NC_000001.9:g.120101418C>T NCBI36
NG_013348.1:g.16661G>A , LRG_447:g.16661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1016+1G>A MANE Select ENSP00000358414.3:n.1016+1G>A
ENST00000369406.7:c.1016+1G>A ENSP00000358414.3:n.1016+1G>A
ENST00000472375.5:n.463+1G>A
ENST00000476640.1:n.747+1G>A
ENST00000544913.2:c.890+1G>A ENSP00000439495.2:n.890+1G>A
NM_001166107.1:c.890+1G>A , LRG_447t2:c.890+1G>A NP_001159579.1:n.890+1G>A
NM_005518.3:c.1016+1G>A , LRG_447t1:c.1016+1G>A NP_005509.1:n.1016+1G>A
XM_011541313.1:c.851+1G>A XP_011539615.1:n.851+1G>A
XM_011541313.2:c.851+1G>A XP_011539615.1:n.851+1G>A
NM_005518.4:c.1016+1G>A MANE Select NP_005509.1:n.1016+1G>A
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