Canonical Allele Identifier: CA10367334
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2660152
ClinVar RCV Id: RCV003430433
dbSNP Id: rs7063422
ExAC: X:21863403 T / C
gnomAD v2: X-21863403-T-C
gnomAD v3: X-21845285-T-C
gnomAD v4: X-21845285-T-C
MyVariant Identifiers: chrX:g.21863403T>C (hg19) chrX:g.21863403_21863421delinsCTCTTCCTCCTCTTCTTCC (hg19) chrX:g.21845285T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845285T>C , CM000685.2:g.21845285T>C GRCh38
NC_000023.10:g.21863403T>C , CM000685.1:g.21863403T>C GRCh37
NC_000023.9:g.21773324T>C NCBI36
NG_012797.1:g.10748T>C
NG_012797.2:g.10748T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.339T>C MANE Select ENSP00000368798.5:p.Tyr113=
ENST00000365779.2:c.339T>C ENSP00000368796.1:p.Tyr113=
ENST00000379484.9:c.339T>C ENSP00000368798.5:p.Tyr113=
ENST00000465888.1:n.438T>C
NM_015884.3:c.339T>C NP_056968.1:p.Tyr113=
NM_015884.4:c.339T>C MANE Select NP_056968.1:p.Tyr113=
Search 100 bp 5'
Search 100 bp 3'