Canonical Allele Identifier: CA2419080833

Gene: MBTPS2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.274T= MANE Select	ENSP00000368798.5:p.Phe92=
ENST00000365779.2:c.274T=	ENSP00000368796.1:p.Phe92=
ENST00000379484.9:c.274T=	ENSP00000368798.5:p.Phe92=
ENST00000465888.1:n.373T=
NM_015884.3:c.274T=	NP_056968.1:p.Phe92=
NM_015884.4:c.274T= MANE Select	NP_056968.1:p.Phe92=