Canonical Allele Identifier: CA10367344
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs3834687
ExAC: X:21863445 CTCTTCT / C
gnomAD v2: X-21863445-CTCTTCT-C
gnomAD v4: X-21845327-CTCTTCT-C
MyVariant Identifiers: chrX:g.21863446_21863451del (hg19) chrX:g.21845328_21845333del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845330_21845335del , CM000685.2:g.21845330_21845335del GRCh38
NC_000023.10:g.21863448_21863453del , CM000685.1:g.21863448_21863453del GRCh37
NC_000023.9:g.21773369_21773374del NCBI36
NG_012797.1:g.10793_10798del
NG_012797.2:g.10793_10798del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.384_389del MANE Select ENSP00000368798.5:p.Ser129_Ser130del
ENST00000365779.2:c.384_389del ENSP00000368796.1:p.Ser129_Ser130del
ENST00000379484.9:c.384_389del ENSP00000368798.5:p.Ser129_Ser130del
ENST00000465888.1:n.483_488del
NM_015884.3:c.384_389del NP_056968.1:p.Ser129_Ser130del
NM_015884.4:c.384_389del MANE Select NP_056968.1:p.Ser129_Ser130del
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