Canonical Allele Identifier: CA515419310
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863356C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845238C>T , CM000685.2:g.21845238C>T GRCh38
NC_000023.10:g.21863356C>T , CM000685.1:g.21863356C>T GRCh37
NC_000023.9:g.21773277C>T NCBI36
NG_012797.1:g.10701C>T
NG_012797.2:g.10701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.292C>T MANE Select ENSP00000368798.5:p.Leu98=
ENST00000365779.2:c.292C>T ENSP00000368796.1:p.Leu98=
ENST00000379484.9:c.292C>T ENSP00000368798.5:p.Leu98=
ENST00000465888.1:n.391C>T
NM_015884.3:c.292C>T NP_056968.1:p.Leu98=
NM_015884.4:c.292C>T MANE Select NP_056968.1:p.Leu98=