Canonical Allele Identifier: CA1037656

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119755426C>G , CM000663.2:g.119755426C>G	GRCh38
NC_000001.10:g.120298049C>G , CM000663.1:g.120298049C>G	GRCh37
NC_000001.9:g.120099572C>G	NCBI36
NG_013348.1:g.18507G>C , LRG_447:g.18507G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.1187+1G>C MANE Select	NP_005509.1:n.1187+1G>C
ENST00000369406.8:c.1187+1G>C MANE Select	ENSP00000358414.3:n.1187+1G>C
NM_001166107.1:c.1061+1G>C , LRG_447t2:c.1061+1G>C	NP_001159579.1:n.1061+1G>C
NM_005518.3:c.1187+1G>C , LRG_447t1:c.1187+1G>C	NP_005509.1:n.1187+1G>C
ENST00000369406.7:c.1187+1G>C	ENSP00000358414.3:n.1187+1G>C
ENST00000544913.2:c.1061+1G>C	ENSP00000439495.2:n.1061+1G>C
XM_011541313.1:c.1022+1G>C	XP_011539615.1:n.1022+1G>C
XM_011541313.2:c.1022+1G>C	XP_011539615.1:n.1022+1G>C