Canonical Allele Identifier: CA2574042340

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119753208-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753210del , CM000663.2:g.119753210del	GRCh38
NC_000001.10:g.120295833del , CM000663.1:g.120295833del	GRCh37
NC_000001.9:g.120097356del	NCBI36
NG_013348.1:g.20724del , LRG_447:g.20724del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+71del MANE Select	ENSP00000358414.3:n.1294+71del
ENST00000369406.7:c.1294+71del	ENSP00000358414.3:n.1294+71del
ENST00000544913.2:c.1168+71del	ENSP00000439495.2:n.1168+71del
NM_001166107.1:c.1168+71del , LRG_447t2:c.1168+71del	NP_001159579.1:n.1168+71del
NM_005518.3:c.1294+71del , LRG_447t1:c.1294+71del	NP_005509.1:n.1294+71del
XM_011541313.1:c.1129+71del	XP_011539615.1:n.1129+71del
XM_011541313.2:c.1129+71del	XP_011539615.1:n.1129+71del
NM_005518.4:c.1294+71del MANE Select	NP_005509.1:n.1294+71del