Canonical Allele Identifier: CA2476693711

Gene: HS2ST1

Linked Data

• ClinVar Variation Id: 997413
• ClinVar RCV Id: RCV001292561
• dbSNP Id: rs1660112720

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.86915095_86915098delinsGAA , CM000663.2:g.86915095_86915098delinsGAA	GRCh38
NC_000001.10:g.87380778_87380781delinsGAA , CM000663.1:g.87380778_87380781delinsGAA	GRCh37
NC_000001.9:g.87153366_87153369delinsGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687893.1:c.59_62delinsGAA	ENSP00000508894.1:p.Phe20Ter
ENST00000689904.1:c.59_62delinsGAA	ENSP00000509983.1:p.Phe20Ter
ENST00000693745.1:c.59_62delinsGAA	ENSP00000509333.1:p.Phe20Ter
ENST00000370550.10:c.59_62delinsGAA MANE Select	ENSP00000359581.4:p.Phe20Ter
ENST00000370550.9:c.59_62delinsGAA	ENSP00000359581.4:p.Phe20Ter
ENST00000370551.8:c.59_62delinsGAA	ENSP00000359582.3:p.Phe20Ter
NM_001134492.1:c.59_62delinsGAA	NP_001127964.1:p.Phe20Ter
NM_012262.3:c.59_62delinsGAA	NP_036394.1:p.Phe20Ter
NM_012262.4:c.59_62delinsGAA MANE Select	NP_036394.1:p.Phe20Ter
NM_001134492.2:c.59_62delinsGAA	NP_001127964.1:p.Phe20Ter