Canonical Allele Identifier: CA412561697
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845173T>G , CM000685.2:g.21845173T>G GRCh38
NC_000023.10:g.21863291T>G , CM000685.1:g.21863291T>G GRCh37
NC_000023.9:g.21773212T>G NCBI36
NG_012797.1:g.10636T>G
NG_012797.2:g.10636T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.227T>G MANE Select ENSP00000368798.5:p.Phe76Cys
ENST00000365779.2:c.227T>G ENSP00000368796.1:p.Phe76Cys
ENST00000379484.9:c.227T>G ENSP00000368798.5:p.Phe76Cys
ENST00000465888.1:n.326T>G
NM_015884.3:c.227T>G NP_056968.1:p.Phe76Cys
NM_015884.4:c.227T>G MANE Select NP_056968.1:p.Phe76Cys