Canonical Allele Identifier: CA2419080829

Gene: MBTPS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845207G= , CM000685.2:g.21845207G=	GRCh38
NC_000023.10:g.21863325G= , CM000685.1:g.21863325G=	GRCh37
NC_000023.9:g.21773246G=	NCBI36
NG_012797.1:g.10670G=
NG_012797.2:g.10670G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.261G= MANE Select	ENSP00000368798.5:p.Met87=
ENST00000365779.2:c.261G=	ENSP00000368796.1:p.Met87=
ENST00000379484.9:c.261G=	ENSP00000368798.5:p.Met87=
ENST00000465888.1:n.360G=
NM_015884.3:c.261G=	NP_056968.1:p.Met87=
NM_015884.4:c.261G= MANE Select	NP_056968.1:p.Met87=