Canonical Allele Identifier: CA1006328102

Gene: HMGCS2

Linked Data

• dbSNP Id: rs1652626363
• gnomAD v3: 1-119750730-C-G
• gnomAD v4: 1-119750730-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119750730C>G , CM000663.2:g.119750730C>G	GRCh38
NC_000001.10:g.120293353C>G , CM000663.1:g.120293353C>G	GRCh37
NC_000001.9:g.120094876C>G	NCBI36
NG_013348.1:g.23203G>C , LRG_447:g.23203G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.*5+67G>C MANE Select	ENSP00000358414.3:n.*5+67G>C
ENST00000369406.7:c.*5+67G>C	ENSP00000358414.3:n.*5+67G>C
ENST00000544913.2:c.*5+67G>C	ENSP00000439495.2:n.*5+67G>C
NM_001166107.1:c.*5+67G>C , LRG_447t2:c.*5+67G>C	NP_001159579.1:n.*5+67G>C
NM_005518.3:c.*5+67G>C , LRG_447t1:c.*5+67G>C	NP_005509.1:n.*5+67G>C
XM_011541313.1:c.*5+67G>C	XP_011539615.1:n.*5+67G>C
XM_011541313.2:c.*5+67G>C	XP_011539615.1:n.*5+67G>C
NM_005518.4:c.*5+67G>C MANE Select	NP_005509.1:n.*5+67G>C