Canonical Allele Identifier: CA327502252

Gene: MBTPS2

Linked Data

• dbSNP Id: rs983068417
• MyVariant Identifiers: chrX:g.21863289G>T (hg19) ; chrX:g.21845171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845171G>T , CM000685.2:g.21845171G>T	GRCh38
NC_000023.10:g.21863289G>T , CM000685.1:g.21863289G>T	GRCh37
NC_000023.9:g.21773210G>T	NCBI36
NG_012797.1:g.10634G>T
NG_012797.2:g.10634G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.225G>T MANE Select	ENSP00000368798.5:p.Trp75Cys
ENST00000365779.2:c.225G>T	ENSP00000368796.1:p.Trp75Cys
ENST00000379484.9:c.225G>T	ENSP00000368798.5:p.Trp75Cys
ENST00000465888.1:n.324G>T
NM_015884.3:c.225G>T	NP_056968.1:p.Trp75Cys
NM_015884.4:c.225G>T MANE Select	NP_056968.1:p.Trp75Cys