Canonical Allele Identifier: CA2647398750

Gene: HMGCS2

Linked Data

• gnomAD v4: 1-119753209-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.119753209G>C , CM000663.2:g.119753209G>C	GRCh38
NC_000001.10:g.120295832G>C , CM000663.1:g.120295832G>C	GRCh37
NC_000001.9:g.120097355G>C	NCBI36
NG_013348.1:g.20724C>G , LRG_447:g.20724C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369406.8:c.1294+71C>G MANE Select	ENSP00000358414.3:n.1294+71C>G
ENST00000369406.7:c.1294+71C>G	ENSP00000358414.3:n.1294+71C>G
ENST00000544913.2:c.1168+71C>G	ENSP00000439495.2:n.1168+71C>G
NM_001166107.1:c.1168+71C>G , LRG_447t2:c.1168+71C>G	NP_001159579.1:n.1168+71C>G
NM_005518.3:c.1294+71C>G , LRG_447t1:c.1294+71C>G	NP_005509.1:n.1294+71C>G
XM_011541313.1:c.1129+71C>G	XP_011539615.1:n.1129+71C>G
XM_011541313.2:c.1129+71C>G	XP_011539615.1:n.1129+71C>G
NM_005518.4:c.1294+71C>G MANE Select	NP_005509.1:n.1294+71C>G