Canonical Allele Identifier: CA412561831

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863350A>G (hg19) ; chrX:g.21845232A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845232A>G , CM000685.2:g.21845232A>G	GRCh38
NC_000023.10:g.21863350A>G , CM000685.1:g.21863350A>G	GRCh37
NC_000023.9:g.21773271A>G	NCBI36
NG_012797.1:g.10695A>G
NG_012797.2:g.10695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.286A>G MANE Select	ENSP00000368798.5:p.Lys96Glu
ENST00000365779.2:c.286A>G	ENSP00000368796.1:p.Lys96Glu
ENST00000379484.9:c.286A>G	ENSP00000368798.5:p.Lys96Glu
ENST00000465888.1:n.385A>G
NM_015884.3:c.286A>G	NP_056968.1:p.Lys96Glu
NM_015884.4:c.286A>G MANE Select	NP_056968.1:p.Lys96Glu