Canonical Allele Identifier: CA1037610

Gene: HMGCS2

Linked Data

• dbSNP Id: rs778510329
• ExAC: 1:120295884 C / G
• gnomAD v2: 1-120295884-C-G
• gnomAD v4: 1-119753261-C-G
• MyVariant Identifiers: chr1:g.120295884C>G (hg19) ; chr1:g.119753261C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753261C>G , CM000663.2:g.119753261C>G	GRCh38
NC_000001.10:g.120295884C>G , CM000663.1:g.120295884C>G	GRCh37
NC_000001.9:g.120097407C>G	NCBI36
NG_013348.1:g.20672G>C , LRG_447:g.20672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+19G>C MANE Select	ENSP00000358414.3:n.1294+19G>C
ENST00000369406.7:c.1294+19G>C	ENSP00000358414.3:n.1294+19G>C
ENST00000544913.2:c.1168+19G>C	ENSP00000439495.2:n.1168+19G>C
NM_001166107.1:c.1168+19G>C , LRG_447t2:c.1168+19G>C	NP_001159579.1:n.1168+19G>C
NM_005518.3:c.1294+19G>C , LRG_447t1:c.1294+19G>C	NP_005509.1:n.1294+19G>C
XM_011541313.1:c.1129+19G>C	XP_011539615.1:n.1129+19G>C
XM_011541313.2:c.1129+19G>C	XP_011539615.1:n.1129+19G>C
NM_005518.4:c.1294+19G>C MANE Select	NP_005509.1:n.1294+19G>C