Canonical Allele Identifier: CA2647400515

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759716-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759716G>A , CM000663.2:g.119759716G>A	GRCh38
NC_000001.10:g.120302339G>A , CM000663.1:g.120302339G>A	GRCh37
NC_000001.9:g.120103862G>A	NCBI36
NG_013348.1:g.14217C>T , LRG_447:g.14217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+148C>T MANE Select	ENSP00000358414.3:n.685+148C>T
ENST00000369406.7:c.685+148C>T	ENSP00000358414.3:n.685+148C>T
ENST00000476640.1:n.581+148C>T
ENST00000544913.2:c.560-434C>T	ENSP00000439495.2:n.560-434C>T
NM_001166107.1:c.560-434C>T , LRG_447t2:c.560-434C>T	NP_001159579.1:n.560-434C>T
NM_005518.3:c.685+148C>T , LRG_447t1:c.685+148C>T	NP_005509.1:n.685+148C>T
XM_011541313.1:c.685+148C>T	XP_011539615.1:n.685+148C>T
XM_011541313.2:c.685+148C>T	XP_011539615.1:n.685+148C>T
NM_005518.4:c.685+148C>T MANE Select	NP_005509.1:n.685+148C>T