Canonical Allele Identifier: CA10367333
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2060666
ClinVar RCV Id: RCV002947893
dbSNP Id: rs762761040
ExAC: X:21863403 T / TTCTTCCTCCTCTTCTTCC
gnomAD v2: X-21863403-T-TTCTTCCTCCTCTTCTTCC
gnomAD v3: X-21845285-T-TTCTTCCTCCTCTTCTTCC
gnomAD v4: X-21845285-T-TTCTTCCTCCTCTTCTTCC
MyVariant Identifiers: chrX:g.21863421_21863422insTCTTCCTCCTCTTCTTCC (hg19) chrX:g.21863403_21863404insTCTTCCTCCTCTTCTTCC (hg19) chrX:g.21845303_21845304insTCTTCCTCCTCTTCTTCC (hg38) chrX:g.21845285_21845286insTCTTCCTCCTCTTCTTCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845312_21845329dup , CM000685.2:g.21845312_21845329dup GRCh38
NC_000023.10:g.21863430_21863447dup , CM000685.1:g.21863430_21863447dup GRCh37
NC_000023.9:g.21773351_21773368dup NCBI36
NG_012797.1:g.10775_10792dup
NG_012797.2:g.10775_10792dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.366_383dup MANE Select ENSP00000368798.5:p.Ser128_Ser129insSerSerSerSerSerSer
ENST00000365779.2:c.366_383dup ENSP00000368796.1:p.Ser128_Ser129insSerSerSerSerSerSer
ENST00000379484.9:c.366_383dup ENSP00000368798.5:p.Ser128_Ser129insSerSerSerSerSerSer
ENST00000465888.1:n.465_482dup
NM_015884.3:c.366_383dup NP_056968.1:p.Ser128_Ser129insSerSerSerSerSerSer
NM_015884.4:c.366_383dup MANE Select NP_056968.1:p.Ser128_Ser129insSerSerSerSerSerSer
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