Canonical Allele Identifier: CA30269105

Gene: HMGCS2

Linked Data

• dbSNP Id: rs779910842
• gnomAD v2: 1-120293354-T-C
• gnomAD v3: 1-119750731-T-C
• gnomAD v4: 1-119750731-T-C
• MyVariant Identifiers: chr1:g.120293354T>C (hg19) ; chr1:g.119750731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119750731T>C , CM000663.2:g.119750731T>C	GRCh38
NC_000001.10:g.120293354T>C , CM000663.1:g.120293354T>C	GRCh37
NC_000001.9:g.120094877T>C	NCBI36
NG_013348.1:g.23202A>G , LRG_447:g.23202A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369406.8:c.*5+66A>G MANE Select	ENSP00000358414.3:n.*5+66A>G
ENST00000369406.7:c.*5+66A>G	ENSP00000358414.3:n.*5+66A>G
ENST00000544913.2:c.*5+66A>G	ENSP00000439495.2:n.*5+66A>G
NM_001166107.1:c.*5+66A>G , LRG_447t2:c.*5+66A>G	NP_001159579.1:n.*5+66A>G
NM_005518.3:c.*5+66A>G , LRG_447t1:c.*5+66A>G	NP_005509.1:n.*5+66A>G
XM_011541313.1:c.*5+66A>G	XP_011539615.1:n.*5+66A>G
XM_011541313.2:c.*5+66A>G	XP_011539615.1:n.*5+66A>G
NM_005518.4:c.*5+66A>G MANE Select	NP_005509.1:n.*5+66A>G