Canonical Allele Identifier: CA2647400529

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119759722-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119759723dup , CM000663.2:g.119759723dup	GRCh38
NC_000001.10:g.120302346dup , CM000663.1:g.120302346dup	GRCh37
NC_000001.9:g.120103869dup	NCBI36
NG_013348.1:g.14210dup , LRG_447:g.14210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.685+141dup MANE Select	ENSP00000358414.3:n.685+141dup
ENST00000369406.7:c.685+141dup	ENSP00000358414.3:n.685+141dup
ENST00000476640.1:n.581+141dup
ENST00000544913.2:c.560-441dup	ENSP00000439495.2:n.560-441dup
NM_001166107.1:c.560-441dup , LRG_447t2:c.560-441dup	NP_001159579.1:n.560-441dup
NM_005518.3:c.685+141dup , LRG_447t1:c.685+141dup	NP_005509.1:n.685+141dup
XM_011541313.1:c.685+141dup	XP_011539615.1:n.685+141dup
XM_011541313.2:c.685+141dup	XP_011539615.1:n.685+141dup
NM_005518.4:c.685+141dup MANE Select	NP_005509.1:n.685+141dup