Canonical Allele Identifier: CA515419512
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863491T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845373T>C , CM000685.2:g.21845373T>C GRCh38
NC_000023.10:g.21863491T>C , CM000685.1:g.21863491T>C GRCh37
NC_000023.9:g.21773412T>C NCBI36
NG_012797.1:g.10836T>C
NG_012797.2:g.10836T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.427T>C MANE Select ENSP00000368798.5:p.Leu143=
ENST00000365779.2:c.427T>C ENSP00000368796.1:p.Leu143=
ENST00000379484.9:c.427T>C ENSP00000368798.5:p.Leu143=
ENST00000465888.1:n.526T>C
NM_015884.3:c.427T>C NP_056968.1:p.Leu143=
NM_015884.4:c.427T>C MANE Select NP_056968.1:p.Leu143=