Canonical Allele Identifier: CA30270221

Gene: HMGCS2

Linked Data

• dbSNP Id: rs971540603
• MyVariant Identifiers: chr1:g.120295906G>A (hg19) ; chr1:g.119753283G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753283G>A , CM000663.2:g.119753283G>A	GRCh38
NC_000001.10:g.120295906G>A , CM000663.1:g.120295906G>A	GRCh37
NC_000001.9:g.120097429G>A	NCBI36
NG_013348.1:g.20650C>T , LRG_447:g.20650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1291C>T MANE Select	ENSP00000358414.3:p.Pro431Ser
ENST00000369406.7:c.1291C>T	ENSP00000358414.3:p.Pro431Ser
ENST00000544913.2:c.1165C>T	ENSP00000439495.2:p.Pro389Ser
NM_001166107.1:c.1165C>T , LRG_447t2:c.1165C>T	NP_001159579.1:p.Pro389Ser
NM_005518.3:c.1291C>T , LRG_447t1:c.1291C>T	NP_005509.1:p.Pro431Ser
XM_011541313.1:c.1126C>T	XP_011539615.1:p.Pro376Ser
XM_011541313.2:c.1126C>T	XP_011539615.1:p.Pro376Ser
NM_005518.4:c.1291C>T MANE Select	NP_005509.1:p.Pro431Ser