Canonical Allele Identifier: CA412570494

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21900643A>T (hg19) ; chrX:g.21882525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21882525A>T , CM000685.2:g.21882525A>T	GRCh38
NC_000023.10:g.21900643A>T , CM000685.1:g.21900643A>T	GRCh37
NC_000023.9:g.21810564A>T	NCBI36
NG_012797.1:g.47988A>T
NG_012797.2:g.47988A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379484.10:c.1430A>T MANE Select	ENSP00000368798.5:p.Asp477Val
ENST00000379484.9:c.1430A>T	ENSP00000368798.5:p.Asp477Val
NM_015884.3:c.1430A>T	NP_056968.1:p.Asp477Val
NM_015884.4:c.1430A>T MANE Select	NP_056968.1:p.Asp477Val