Canonical Allele Identifier: CA341856635
Gene: HMGCS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750823C>G , CM000663.2:g.119750823C>G GRCh38
NC_000001.10:g.120293446C>G , CM000663.1:g.120293446C>G GRCh37
NC_000001.9:g.120094969C>G NCBI36
NG_013348.1:g.23110G>C , LRG_447:g.23110G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.1506G>C MANE Select ENSP00000358414.3:p.Lys502Asn
ENST00000369406.7:c.1506G>C ENSP00000358414.3:p.Lys502Asn
ENST00000544913.2:c.1380G>C ENSP00000439495.2:p.Lys460Asn
NM_001166107.1:c.1380G>C , LRG_447t2:c.1380G>C NP_001159579.1:p.Lys460Asn
NM_005518.3:c.1506G>C , LRG_447t1:c.1506G>C NP_005509.1:p.Lys502Asn
XM_011541313.1:c.1341G>C XP_011539615.1:p.Lys447Asn
XM_011541313.2:c.1341G>C XP_011539615.1:p.Lys447Asn
NM_005518.4:c.1506G>C MANE Select NP_005509.1:p.Lys502Asn