Canonical Allele Identifier: CA1192440245

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1652719165
• gnomAD v4: 1-119753213-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753213G>T , CM000663.2:g.119753213G>T	GRCh38
NC_000001.10:g.120295836G>T , CM000663.1:g.120295836G>T	GRCh37
NC_000001.9:g.120097359G>T	NCBI36
NG_013348.1:g.20720C>A , LRG_447:g.20720C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+67C>A MANE Select	ENSP00000358414.3:n.1294+67C>A
ENST00000369406.7:c.1294+67C>A	ENSP00000358414.3:n.1294+67C>A
ENST00000544913.2:c.1168+67C>A	ENSP00000439495.2:n.1168+67C>A
NM_001166107.1:c.1168+67C>A , LRG_447t2:c.1168+67C>A	NP_001159579.1:n.1168+67C>A
NM_005518.3:c.1294+67C>A , LRG_447t1:c.1294+67C>A	NP_005509.1:n.1294+67C>A
XM_011541313.1:c.1129+67C>A	XP_011539615.1:n.1129+67C>A
XM_011541313.2:c.1129+67C>A	XP_011539615.1:n.1129+67C>A
NM_005518.4:c.1294+67C>A MANE Select	NP_005509.1:n.1294+67C>A