Canonical Allele Identifier: CA128790
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 29956
ClinVar RCV Id: RCV000022848 RCV000254794
dbSNP Id: rs587776867
gnomAD v4: X-21882618-A-G
MyVariant Identifiers: chrX:g.21900736A>G (hg19) chrX:g.21882618A>G (hg38)
PubMed: PMID:8745901 PMID:20672378 PMID:23316014
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21882618A>G , CM000685.2:g.21882618A>G GRCh38
NC_000023.10:g.21900736A>G , CM000685.1:g.21900736A>G GRCh37
NC_000023.9:g.21810657A>G NCBI36
NG_012797.1:g.48081A>G
NG_012797.2:g.48081A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.1523A>G MANE Select ENSP00000368798.5:p.Asn508Ser
ENST00000379484.9:c.1523A>G ENSP00000368798.5:p.Asn508Ser
NM_015884.3:c.1523A>G NP_056968.1:p.Asn508Ser
NM_015884.4:c.1523A>G MANE Select NP_056968.1:p.Asn508Ser
Search 100 bp 5'
Search 100 bp 3'