Canonical Allele Identifier: CA515419241

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863322C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845204C>T , CM000685.2:g.21845204C>T	GRCh38
NC_000023.10:g.21863322C>T , CM000685.1:g.21863322C>T	GRCh37
NC_000023.9:g.21773243C>T	NCBI36
NG_012797.1:g.10667C>T
NG_012797.2:g.10667C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.258C>T MANE Select	ENSP00000368798.5:p.Ala86=
ENST00000365779.2:c.258C>T	ENSP00000368796.1:p.Ala86=
ENST00000379484.9:c.258C>T	ENSP00000368798.5:p.Ala86=
ENST00000465888.1:n.357C>T
NM_015884.3:c.258C>T	NP_056968.1:p.Ala86=
NM_015884.4:c.258C>T MANE Select	NP_056968.1:p.Ala86=