Canonical Allele Identifier: CA2647398073
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119750747-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750747G>T , CM000663.2:g.119750747G>T GRCh38
NC_000001.10:g.120293370G>T , CM000663.1:g.120293370G>T GRCh37
NC_000001.9:g.120094893G>T NCBI36
NG_013348.1:g.23186C>A , LRG_447:g.23186C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.*5+50C>A MANE Select ENSP00000358414.3:n.*5+50C>A
ENST00000369406.7:c.*5+50C>A ENSP00000358414.3:n.*5+50C>A
ENST00000544913.2:c.*5+50C>A ENSP00000439495.2:n.*5+50C>A
NM_001166107.1:c.*5+50C>A , LRG_447t2:c.*5+50C>A NP_001159579.1:n.*5+50C>A
NM_005518.3:c.*5+50C>A , LRG_447t1:c.*5+50C>A NP_005509.1:n.*5+50C>A
XM_011541313.1:c.*5+50C>A XP_011539615.1:n.*5+50C>A
XM_011541313.2:c.*5+50C>A XP_011539615.1:n.*5+50C>A
NM_005518.4:c.*5+50C>A MANE Select NP_005509.1:n.*5+50C>A
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