Canonical Allele Identifier: CA420026295
Gene: HMGCS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.120302497G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759874G>C , CM000663.2:g.119759874G>C GRCh38
NC_000001.10:g.120302497G>C , CM000663.1:g.120302497G>C GRCh37
NC_000001.9:g.120104020G>C NCBI36
NG_013348.1:g.14059C>G , LRG_447:g.14059C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.675C>G MANE Select ENSP00000358414.3:p.Ala225=
ENST00000369406.7:c.675C>G ENSP00000358414.3:p.Ala225=
ENST00000476640.1:n.571C>G
ENST00000544913.2:c.560-592C>G ENSP00000439495.2:n.560-592C>G
NM_001166107.1:c.560-592C>G , LRG_447t2:c.560-592C>G NP_001159579.1:n.560-592C>G
NM_005518.3:c.675C>G , LRG_447t1:c.675C>G NP_005509.1:p.Ala225=
XM_011541313.1:c.675C>G XP_011539615.1:p.Ala225=
XM_011541313.2:c.675C>G XP_011539615.1:p.Ala225=
NM_005518.4:c.675C>G MANE Select NP_005509.1:p.Ala225=
Search 100 bp 5'
Search 100 bp 3'