Canonical Allele Identifier: CA10367338
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs761369288
ExAC: X:21863430 CTCTTCTTCCTCTTCCTCTTCTTCA / C
gnomAD v2: X-21863430-CTCTTCTTCCTCTTCCTCTTCTTCA-C
gnomAD v4: X-21845312-CTCTTCTTCCTCTTCCTCTTCTTCA-C
MyVariant Identifiers: chrX:g.21863431_21863454del (hg19) chrX:g.21845313_21845336del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845330_21845353del , CM000685.2:g.21845330_21845353del GRCh38
NC_000023.10:g.21863448_21863471del , CM000685.1:g.21863448_21863471del GRCh37
NC_000023.9:g.21773369_21773392del NCBI36
NG_012797.1:g.10793_10816del
NG_012797.2:g.10793_10816del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.384_407del MANE Select ENSP00000368798.5:p.Ser129_Ser136del
ENST00000365779.2:c.384_407del ENSP00000368796.1:p.Ser129_Ser136del
ENST00000379484.9:c.384_407del ENSP00000368798.5:p.Ser129_Ser136del
ENST00000465888.1:n.483_506del
NM_015884.3:c.384_407del NP_056968.1:p.Ser129_Ser136del
NM_015884.4:c.384_407del MANE Select NP_056968.1:p.Ser129_Ser136del
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