Canonical Allele Identifier: CA2647400541
Gene: HMGCS2 HGNC NCBI

Linked Data

gnomAD v4: 1-119759735-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759735T>G , CM000663.2:g.119759735T>G GRCh38
NC_000001.10:g.120302358T>G , CM000663.1:g.120302358T>G GRCh37
NC_000001.9:g.120103881T>G NCBI36
NG_013348.1:g.14198A>C , LRG_447:g.14198A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.685+129A>C MANE Select ENSP00000358414.3:n.685+129A>C
ENST00000369406.7:c.685+129A>C ENSP00000358414.3:n.685+129A>C
ENST00000476640.1:n.581+129A>C
ENST00000544913.2:c.560-453A>C ENSP00000439495.2:n.560-453A>C
NM_001166107.1:c.560-453A>C , LRG_447t2:c.560-453A>C NP_001159579.1:n.560-453A>C
NM_005518.3:c.685+129A>C , LRG_447t1:c.685+129A>C NP_005509.1:n.685+129A>C
XM_011541313.1:c.685+129A>C XP_011539615.1:n.685+129A>C
XM_011541313.2:c.685+129A>C XP_011539615.1:n.685+129A>C
NM_005518.4:c.685+129A>C MANE Select NP_005509.1:n.685+129A>C
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