Canonical Allele Identifier: CA1192439223
Gene: HMGCS2 HGNC NCBI

Linked Data

dbSNP Id: rs779910842
gnomAD v4: 1-119750731-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119750731T>A , CM000663.2:g.119750731T>A GRCh38
NC_000001.10:g.120293354T>A , CM000663.1:g.120293354T>A GRCh37
NC_000001.9:g.120094877T>A NCBI36
NG_013348.1:g.23202A>T , LRG_447:g.23202A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369406.8:c.*5+66A>T MANE Select ENSP00000358414.3:n.*5+66A>T
ENST00000369406.7:c.*5+66A>T ENSP00000358414.3:n.*5+66A>T
ENST00000544913.2:c.*5+66A>T ENSP00000439495.2:n.*5+66A>T
NM_001166107.1:c.*5+66A>T , LRG_447t2:c.*5+66A>T NP_001159579.1:n.*5+66A>T
NM_005518.3:c.*5+66A>T , LRG_447t1:c.*5+66A>T NP_005509.1:n.*5+66A>T
XM_011541313.1:c.*5+66A>T XP_011539615.1:n.*5+66A>T
XM_011541313.2:c.*5+66A>T XP_011539615.1:n.*5+66A>T
NM_005518.4:c.*5+66A>T MANE Select NP_005509.1:n.*5+66A>T
Search 100 bp 5'
Search 100 bp 3'