Canonical Allele Identifier: CA341862929
Gene: HMGCS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119759908A>G , CM000663.2:g.119759908A>G GRCh38
NC_000001.10:g.120302531A>G , CM000663.1:g.120302531A>G GRCh37
NC_000001.9:g.120104054A>G NCBI36
NG_013348.1:g.14025T>C , LRG_447:g.14025T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369406.8:c.641T>C MANE Select ENSP00000358414.3:p.Val214Ala
ENST00000369406.7:c.641T>C ENSP00000358414.3:p.Val214Ala
ENST00000476640.1:n.537T>C
ENST00000544913.2:c.560-626T>C ENSP00000439495.2:n.560-626T>C
NM_001166107.1:c.560-626T>C , LRG_447t2:c.560-626T>C NP_001159579.1:n.560-626T>C
NM_005518.3:c.641T>C , LRG_447t1:c.641T>C NP_005509.1:p.Val214Ala
XM_011541313.1:c.641T>C XP_011539615.1:p.Val214Ala
XM_011541313.2:c.641T>C XP_011539615.1:p.Val214Ala
NM_005518.4:c.641T>C MANE Select NP_005509.1:p.Val214Ala