Canonical Allele Identifier: CA412561846
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845239T>A , CM000685.2:g.21845239T>A GRCh38
NC_000023.10:g.21863357T>A , CM000685.1:g.21863357T>A GRCh37
NC_000023.9:g.21773278T>A NCBI36
NG_012797.1:g.10702T>A
NG_012797.2:g.10702T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.293T>A MANE Select ENSP00000368798.5:p.Leu98Gln
ENST00000365779.2:c.293T>A ENSP00000368796.1:p.Leu98Gln
ENST00000379484.9:c.293T>A ENSP00000368798.5:p.Leu98Gln
ENST00000465888.1:n.392T>A
NM_015884.3:c.293T>A NP_056968.1:p.Leu98Gln
NM_015884.4:c.293T>A MANE Select NP_056968.1:p.Leu98Gln