Canonical Allele Identifier: CA515419252
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863331C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845213C>T , CM000685.2:g.21845213C>T GRCh38
NC_000023.10:g.21863331C>T , CM000685.1:g.21863331C>T GRCh37
NC_000023.9:g.21773252C>T NCBI36
NG_012797.1:g.10676C>T
NG_012797.2:g.10676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.267C>T MANE Select ENSP00000368798.5:p.Ser89=
ENST00000365779.2:c.267C>T ENSP00000368796.1:p.Ser89=
ENST00000379484.9:c.267C>T ENSP00000368798.5:p.Ser89=
ENST00000465888.1:n.366C>T
NM_015884.3:c.267C>T NP_056968.1:p.Ser89=
NM_015884.4:c.267C>T MANE Select NP_056968.1:p.Ser89=