Canonical Allele Identifier: CA327502253
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510358
ClinVar RCV Id: RCV002011706
dbSNP Id: rs779941206
gnomAD v2: X-21863338-T-C
gnomAD v3: X-21845220-T-C
gnomAD v4: X-21845220-T-C
MyVariant Identifiers: chrX:g.21863338T>C (hg19) chrX:g.21845220T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845220T>C , CM000685.2:g.21845220T>C GRCh38
NC_000023.10:g.21863338T>C , CM000685.1:g.21863338T>C GRCh37
NC_000023.9:g.21773259T>C NCBI36
NG_012797.1:g.10683T>C
NG_012797.2:g.10683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.274T>C MANE Select ENSP00000368798.5:p.Phe92Leu
ENST00000365779.2:c.274T>C ENSP00000368796.1:p.Phe92Leu
ENST00000379484.9:c.274T>C ENSP00000368798.5:p.Phe92Leu
ENST00000465888.1:n.373T>C
NM_015884.3:c.274T>C NP_056968.1:p.Phe92Leu
NM_015884.4:c.274T>C MANE Select NP_056968.1:p.Phe92Leu
Search 100 bp 5'
Search 100 bp 3'