Canonical Allele Identifier: CA10367332
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496905
ClinVar RCV Id: RCV000591837 RCV001867915
dbSNP Id: rs762761040
ExAC: X:21863403 TTCTTCCTCCTCTTCTTCC / T
gnomAD v2: X-21863403-TTCTTCCTCCTCTTCTTCC-T
gnomAD v3: X-21845285-TTCTTCCTCCTCTTCTTCC-T
gnomAD v4: X-21845285-TTCTTCCTCCTCTTCTTCC-T
MyVariant Identifiers: chrX:g.21863430_21863447del (hg19) chrX:g.21863404_21863421del (hg19) chrX:g.21845312_21845329del (hg38) chrX:g.21845286_21845303del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845312_21845329del , CM000685.2:g.21845312_21845329del GRCh38
NC_000023.10:g.21863430_21863447del , CM000685.1:g.21863430_21863447del GRCh37
NC_000023.9:g.21773351_21773368del NCBI36
NG_012797.1:g.10775_10792del
NG_012797.2:g.10775_10792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.366_383del MANE Select ENSP00000368798.5:p.Ser123_Ser128del
ENST00000365779.2:c.366_383del ENSP00000368796.1:p.Ser123_Ser128del
ENST00000379484.9:c.366_383del ENSP00000368798.5:p.Ser123_Ser128del
ENST00000465888.1:n.465_482del
NM_015884.3:c.366_383del NP_056968.1:p.Ser123_Ser128del
NM_015884.4:c.366_383del MANE Select NP_056968.1:p.Ser123_Ser128del
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Search 100 bp 3'