Canonical Allele Identifier: CA341857877

Gene: HMGCS2

Linked Data

• MyVariant Identifiers: chr1:g.120295903C>A (hg19) ; chr1:g.119753280C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753280C>A , CM000663.2:g.119753280C>A	GRCh38
NC_000001.10:g.120295903C>A , CM000663.1:g.120295903C>A	GRCh37
NC_000001.9:g.120097426C>A	NCBI36
NG_013348.1:g.20653G>T , LRG_447:g.20653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294G>T MANE Select	ENSP00000358414.3:p.Gly432Cys
ENST00000369406.7:c.1294G>T	ENSP00000358414.3:p.Gly432Cys
ENST00000544913.2:c.1168G>T	ENSP00000439495.2:p.Gly390Cys
NM_001166107.1:c.1168G>T , LRG_447t2:c.1168G>T	NP_001159579.1:p.Gly390Cys
NM_005518.3:c.1294G>T , LRG_447t1:c.1294G>T	NP_005509.1:p.Gly432Cys
XM_011541313.1:c.1129G>T	XP_011539615.1:p.Gly377Cys
XM_011541313.2:c.1129G>T	XP_011539615.1:p.Gly377Cys
NM_005518.4:c.1294G>T MANE Select	NP_005509.1:p.Gly432Cys