Canonical Allele Identifier: CA515419484
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863472G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845354G>C , CM000685.2:g.21845354G>C GRCh38
NC_000023.10:g.21863472G>C , CM000685.1:g.21863472G>C GRCh37
NC_000023.9:g.21773393G>C NCBI36
NG_012797.1:g.10817G>C
NG_012797.2:g.10817G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.408G>C MANE Select ENSP00000368798.5:p.Ser136=
ENST00000365779.2:c.408G>C ENSP00000368796.1:p.Ser136=
ENST00000379484.9:c.408G>C ENSP00000368798.5:p.Ser136=
ENST00000465888.1:n.507G>C
NM_015884.3:c.408G>C NP_056968.1:p.Ser136=
NM_015884.4:c.408G>C MANE Select NP_056968.1:p.Ser136=