Canonical Allele Identifier: CA128790

Gene: MBTPS2

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

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