Canonical Allele Identifier: CA2579570801
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845309_21845317del , CM000685.2:g.21845309_21845317del GRCh38
NC_000023.10:g.21863427_21863435del , CM000685.1:g.21863427_21863435del GRCh37
NC_000023.9:g.21773348_21773356del NCBI36
NG_012797.1:g.10772_10780del
NG_012797.2:g.10772_10780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.363_371del MANE Select ENSP00000368798.5:p.Ser122_Ser124del
ENST00000365779.2:c.363_371del ENSP00000368796.1:p.Ser122_Ser124del
ENST00000379484.9:c.363_371del ENSP00000368798.5:p.Ser122_Ser124del
ENST00000465888.1:n.462_470del
NM_015884.3:c.363_371del NP_056968.1:p.Ser122_Ser124del
NM_015884.4:c.363_371del MANE Select NP_056968.1:p.Ser122_Ser124del