Canonical Allele Identifier: CA1037807

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759264A>G , CM000663.2:g.119759264A>G	GRCh38
NC_000001.10:g.120301887A>G , CM000663.1:g.120301887A>G	GRCh37
NC_000001.9:g.120103410A>G	NCBI36
NG_013348.1:g.14669T>C , LRG_447:g.14669T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.704T>C MANE Select	NP_005509.1:p.Met235Thr
ENST00000369406.8:c.704T>C MANE Select	ENSP00000358414.3:p.Met235Thr
NM_001166107.1:c.578T>C , LRG_447t2:c.578T>C	NP_001159579.1:p.Met193Thr
NM_005518.3:c.704T>C , LRG_447t1:c.704T>C	NP_005509.1:p.Met235Thr
ENST00000369406.7:c.704T>C	ENSP00000358414.3:p.Met235Thr
ENST00000472375.5:n.151T>C
ENST00000476640.1:n.581+600T>C
ENST00000544913.2:c.578T>C	ENSP00000439495.2:p.Met193Thr
XM_011541313.1:c.685+600T>C	XP_011539615.1:n.685+600T>C
XM_011541313.2:c.685+600T>C	XP_011539615.1:n.685+600T>C