Canonical Allele Identifier: CA2647398055

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119750740-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119750740T>A , CM000663.2:g.119750740T>A	GRCh38
NC_000001.10:g.120293363T>A , CM000663.1:g.120293363T>A	GRCh37
NC_000001.9:g.120094886T>A	NCBI36
NG_013348.1:g.23193A>T , LRG_447:g.23193A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369406.8:c.*5+57A>T MANE Select	ENSP00000358414.3:n.*5+57A>T
ENST00000369406.7:c.*5+57A>T	ENSP00000358414.3:n.*5+57A>T
ENST00000544913.2:c.*5+57A>T	ENSP00000439495.2:n.*5+57A>T
NM_001166107.1:c.*5+57A>T , LRG_447t2:c.*5+57A>T	NP_001159579.1:n.*5+57A>T
NM_005518.3:c.*5+57A>T , LRG_447t1:c.*5+57A>T	NP_005509.1:n.*5+57A>T
XM_011541313.1:c.*5+57A>T	XP_011539615.1:n.*5+57A>T
XM_011541313.2:c.*5+57A>T	XP_011539615.1:n.*5+57A>T
NM_005518.4:c.*5+57A>T MANE Select	NP_005509.1:n.*5+57A>T