Canonical Allele Identifier: CA2419080845
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs2092907319
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845284_21845301del , CM000685.2:g.21845284_21845301del GRCh38
NC_000023.10:g.21863402_21863419del , CM000685.1:g.21863402_21863419del GRCh37
NC_000023.9:g.21773323_21773340del NCBI36
NG_012797.1:g.10747_10764del
NG_012797.2:g.10747_10764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.338_355del MANE Select ENSP00000368798.5:p.Tyr113_Ser118del
ENST00000365779.2:c.338_355del ENSP00000368796.1:p.Tyr113_Ser118del
ENST00000379484.9:c.338_355del ENSP00000368798.5:p.Tyr113_Ser118del
ENST00000465888.1:n.437_454del
NM_015884.3:c.338_355del NP_056968.1:p.Tyr113_Ser118del
NM_015884.4:c.338_355del MANE Select NP_056968.1:p.Tyr113_Ser118del
Search 100 bp 5'
Search 100 bp 3'