Canonical Allele Identifier: CA1192440248

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1652719456

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753221G>A , CM000663.2:g.119753221G>A	GRCh38
NC_000001.10:g.120295844G>A , CM000663.1:g.120295844G>A	GRCh37
NC_000001.9:g.120097367G>A	NCBI36
NG_013348.1:g.20712C>T , LRG_447:g.20712C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+59C>T MANE Select	ENSP00000358414.3:n.1294+59C>T
ENST00000369406.7:c.1294+59C>T	ENSP00000358414.3:n.1294+59C>T
ENST00000544913.2:c.1168+59C>T	ENSP00000439495.2:n.1168+59C>T
NM_001166107.1:c.1168+59C>T , LRG_447t2:c.1168+59C>T	NP_001159579.1:n.1168+59C>T
NM_005518.3:c.1294+59C>T , LRG_447t1:c.1294+59C>T	NP_005509.1:n.1294+59C>T
XM_011541313.1:c.1129+59C>T	XP_011539615.1:n.1129+59C>T
XM_011541313.2:c.1129+59C>T	XP_011539615.1:n.1129+59C>T
NM_005518.4:c.1294+59C>T MANE Select	NP_005509.1:n.1294+59C>T