Canonical Allele Identifier: CA2419080821

Gene: MBTPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845195C= , CM000685.2:g.21845195C=	GRCh38
NC_000023.10:g.21863313C= , CM000685.1:g.21863313C=	GRCh37
NC_000023.9:g.21773234C=	NCBI36
NG_012797.1:g.10658C=
NG_012797.2:g.10658C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.249C= MANE Select	ENSP00000368798.5:p.Gly83=
ENST00000365779.2:c.249C=	ENSP00000368796.1:p.Gly83=
ENST00000379484.9:c.249C=	ENSP00000368798.5:p.Gly83=
ENST00000465888.1:n.348C=
NM_015884.3:c.249C=	NP_056968.1:p.Gly83=
NM_015884.4:c.249C= MANE Select	NP_056968.1:p.Gly83=