Canonical Allele Identifier: CA10607952

Gene: HMGCS2

Linked Data

• ClinVar Variation Id: 292323
• ClinVar RCV Id: RCV000282093 ; RCV000366088
• dbSNP Id: rs56828380
• gnomAD v2: 1-120291138-T-G
• gnomAD v3: 1-119748515-T-G
• gnomAD v4: 1-119748515-T-G
• MyVariant Identifiers: chr1:g.120291138T>G (hg19) ; chr1:g.119748515T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119748515T>G , CM000663.2:g.119748515T>G	GRCh38
NC_000001.10:g.120291138T>G , CM000663.1:g.120291138T>G	GRCh37
NC_000001.9:g.120092661T>G	NCBI36
NG_013348.1:g.25418A>C , LRG_447:g.25418A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.*332A>C MANE Select	ENSP00000358414.3:n.*332A>C
ENST00000369406.7:c.*332A>C	ENSP00000358414.3:n.*332A>C
ENST00000544913.2:c.*332A>C	ENSP00000439495.2:n.*332A>C
NM_001166107.1:c.*332A>C , LRG_447t2:c.*332A>C	NP_001159579.1:n.*332A>C
NM_005518.3:c.*332A>C , LRG_447t1:c.*332A>C	NP_005509.1:n.*332A>C
XM_011541313.1:c.*332A>C	XP_011539615.1:n.*332A>C
XM_011541313.2:c.*332A>C	XP_011539615.1:n.*332A>C
NM_005518.4:c.*332A>C MANE Select	NP_005509.1:n.*332A>C