Canonical Allele Identifier: CA2580100458
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047440
ClinVar RCV Id: RCV002926851

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845351_21845353del , CM000685.2:g.21845351_21845353del GRCh38
NC_000023.10:g.21863469_21863471del , CM000685.1:g.21863469_21863471del GRCh37
NC_000023.9:g.21773390_21773392del NCBI36
NG_012797.1:g.10814_10816del
NG_012797.2:g.10814_10816del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.405_407del MANE Select ENSP00000368798.5:p.Ser136del
ENST00000365779.2:c.405_407del ENSP00000368796.1:p.Ser136del
ENST00000379484.9:c.405_407del ENSP00000368798.5:p.Ser136del
ENST00000465888.1:n.504_506del
NM_015884.3:c.405_407del NP_056968.1:p.Ser136del
NM_015884.4:c.405_407del MANE Select NP_056968.1:p.Ser136del