Canonical Allele Identifier: CA2419080825

Gene: MBTPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845200T= , CM000685.2:g.21845200T=	GRCh38
NC_000023.10:g.21863318T= , CM000685.1:g.21863318T=	GRCh37
NC_000023.9:g.21773239T=	NCBI36
NG_012797.1:g.10663T=
NG_012797.2:g.10663T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.254T= MANE Select	ENSP00000368798.5:p.Ile85=
ENST00000365779.2:c.254T=	ENSP00000368796.1:p.Ile85=
ENST00000379484.9:c.254T=	ENSP00000368798.5:p.Ile85=
ENST00000465888.1:n.353T=
NM_015884.3:c.254T=	NP_056968.1:p.Ile85=
NM_015884.4:c.254T= MANE Select	NP_056968.1:p.Ile85=