Canonical Allele Identifier: CA1192442356
Gene: HMGCS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759618C= , CM000663.2:g.119759618C= GRCh38
NC_000001.10:g.120302241C= , CM000663.1:g.120302241C= GRCh37
NC_000001.9:g.120103764C= NCBI36
NG_013348.1:g.14315G= , LRG_447:g.14315G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.685+246G= MANE Select ENSP00000358414.3:n.685+246G=
ENST00000369406.7:c.685+246G= ENSP00000358414.3:n.685+246G=
ENST00000476640.1:n.581+246G=
ENST00000544913.2:c.560-336G= ENSP00000439495.2:n.560-336G=
NM_001166107.1:c.560-336G= , LRG_447t2:c.560-336G= NP_001159579.1:n.560-336G=
NM_005518.3:c.685+246G= , LRG_447t1:c.685+246G= NP_005509.1:n.685+246G=
XM_011541313.1:c.685+246G= XP_011539615.1:n.685+246G=
XM_011541313.2:c.685+246G= XP_011539615.1:n.685+246G=
NM_005518.4:c.685+246G= MANE Select NP_005509.1:n.685+246G=