Canonical Allele Identifier: CA2647398773

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119753244-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753244C>A , CM000663.2:g.119753244C>A	GRCh38
NC_000001.10:g.120295867C>A , CM000663.1:g.120295867C>A	GRCh37
NC_000001.9:g.120097390C>A	NCBI36
NG_013348.1:g.20689G>T , LRG_447:g.20689G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+36G>T MANE Select	ENSP00000358414.3:n.1294+36G>T
ENST00000369406.7:c.1294+36G>T	ENSP00000358414.3:n.1294+36G>T
ENST00000544913.2:c.1168+36G>T	ENSP00000439495.2:n.1168+36G>T
NM_001166107.1:c.1168+36G>T , LRG_447t2:c.1168+36G>T	NP_001159579.1:n.1168+36G>T
NM_005518.3:c.1294+36G>T , LRG_447t1:c.1294+36G>T	NP_005509.1:n.1294+36G>T
XM_011541313.1:c.1129+36G>T	XP_011539615.1:n.1129+36G>T
XM_011541313.2:c.1129+36G>T	XP_011539615.1:n.1129+36G>T
NM_005518.4:c.1294+36G>T MANE Select	NP_005509.1:n.1294+36G>T