Canonical Allele Identifier: CA2647398072
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119750746-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750746A>G , CM000663.2:g.119750746A>G GRCh38
NC_000001.10:g.120293369A>G , CM000663.1:g.120293369A>G GRCh37
NC_000001.9:g.120094892A>G NCBI36
NG_013348.1:g.23187T>C , LRG_447:g.23187T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.*5+51T>C MANE Select ENSP00000358414.3:n.*5+51T>C
ENST00000369406.7:c.*5+51T>C ENSP00000358414.3:n.*5+51T>C
ENST00000544913.2:c.*5+51T>C ENSP00000439495.2:n.*5+51T>C
NM_001166107.1:c.*5+51T>C , LRG_447t2:c.*5+51T>C NP_001159579.1:n.*5+51T>C
NM_005518.3:c.*5+51T>C , LRG_447t1:c.*5+51T>C NP_005509.1:n.*5+51T>C
XM_011541313.1:c.*5+51T>C XP_011539615.1:n.*5+51T>C
XM_011541313.2:c.*5+51T>C XP_011539615.1:n.*5+51T>C
NM_005518.4:c.*5+51T>C MANE Select NP_005509.1:n.*5+51T>C
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