Canonical Allele Identifier: CA2693295764
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845300_21845302del , CM000685.2:g.21845300_21845302del GRCh38
NC_000023.10:g.21863418_21863420del , CM000685.1:g.21863418_21863420del GRCh37
NC_000023.9:g.21773339_21773341del NCBI36
NG_012797.1:g.10763_10765del
NG_012797.2:g.10763_10765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.354_356del MANE Select ENSP00000368798.5:p.Ser119del
ENST00000365779.2:c.354_356del ENSP00000368796.1:p.Ser119del
ENST00000379484.9:c.354_356del ENSP00000368798.5:p.Ser119del
ENST00000465888.1:n.453_455del
NM_015884.3:c.354_356del NP_056968.1:p.Ser119del
NM_015884.4:c.354_356del MANE Select NP_056968.1:p.Ser119del