Canonical Allele Identifier: CA515419228

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863307G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845189G>C , CM000685.2:g.21845189G>C	GRCh38
NC_000023.10:g.21863307G>C , CM000685.1:g.21863307G>C	GRCh37
NC_000023.9:g.21773228G>C	NCBI36
NG_012797.1:g.10652G>C
NG_012797.2:g.10652G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.243G>C MANE Select	ENSP00000368798.5:p.Val81=
ENST00000365779.2:c.243G>C	ENSP00000368796.1:p.Val81=
ENST00000379484.9:c.243G>C	ENSP00000368798.5:p.Val81=
ENST00000465888.1:n.342G>C
NM_015884.3:c.243G>C	NP_056968.1:p.Val81=
NM_015884.4:c.243G>C MANE Select	NP_056968.1:p.Val81=