Canonical Allele Identifier: CA30271126

Gene: HMGCS2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119755599T>C , CM000663.2:g.119755599T>C	GRCh38
NC_000001.10:g.120298222T>C , CM000663.1:g.120298222T>C	GRCh37
NC_000001.9:g.120099745T>C	NCBI36
NG_013348.1:g.18334A>G , LRG_447:g.18334A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005518.4:c.1017-2A>G MANE Select	NP_005509.1:n.1017-2A>G
ENST00000369406.8:c.1017-2A>G MANE Select	ENSP00000358414.3:n.1017-2A>G
NM_001166107.1:c.891-2A>G , LRG_447t2:c.891-2A>G	NP_001159579.1:n.891-2A>G
NM_005518.3:c.1017-2A>G , LRG_447t1:c.1017-2A>G	NP_005509.1:n.1017-2A>G
ENST00000369406.7:c.1017-2A>G	ENSP00000358414.3:n.1017-2A>G
ENST00000472375.5:n.464-2A>G
ENST00000476640.1:n.748-2A>G
ENST00000544913.2:c.891-2A>G	ENSP00000439495.2:n.891-2A>G
XM_011541313.1:c.852-2A>G	XP_011539615.1:n.852-2A>G
XM_011541313.2:c.852-2A>G	XP_011539615.1:n.852-2A>G