Canonical Allele Identifier: CA2647400516
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119759716-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759716G>T , CM000663.2:g.119759716G>T GRCh38
NC_000001.10:g.120302339G>T , CM000663.1:g.120302339G>T GRCh37
NC_000001.9:g.120103862G>T NCBI36
NG_013348.1:g.14217C>A , LRG_447:g.14217C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.685+148C>A MANE Select ENSP00000358414.3:n.685+148C>A
ENST00000369406.7:c.685+148C>A ENSP00000358414.3:n.685+148C>A
ENST00000476640.1:n.581+148C>A
ENST00000544913.2:c.560-434C>A ENSP00000439495.2:n.560-434C>A
NM_001166107.1:c.560-434C>A , LRG_447t2:c.560-434C>A NP_001159579.1:n.560-434C>A
NM_005518.3:c.685+148C>A , LRG_447t1:c.685+148C>A NP_005509.1:n.685+148C>A
XM_011541313.1:c.685+148C>A XP_011539615.1:n.685+148C>A
XM_011541313.2:c.685+148C>A XP_011539615.1:n.685+148C>A
NM_005518.4:c.685+148C>A MANE Select NP_005509.1:n.685+148C>A
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