Canonical Allele Identifier: CA16608810
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 392629
ClinVar RCV Id: RCV000421935
dbSNP Id: rs587776867
MyVariant Identifiers: chrX:g.21900736A>T (hg19) chrX:g.21882618A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.1523A>T MANE Select ENSP00000368798.5:p.Asn508Ile
ENST00000379484.9:c.1523A>T ENSP00000368798.5:p.Asn508Ile
NM_015884.3:c.1523A>T NP_056968.1:p.Asn508Ile
NM_015884.4:c.1523A>T MANE Select NP_056968.1:p.Asn508Ile
Search 100 bp 5'
Search 100 bp 3'