Canonical Allele Identifier: CA412561756
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845199A>C , CM000685.2:g.21845199A>C GRCh38
NC_000023.10:g.21863317A>C , CM000685.1:g.21863317A>C GRCh37
NC_000023.9:g.21773238A>C NCBI36
NG_012797.1:g.10662A>C
NG_012797.2:g.10662A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.253A>C MANE Select ENSP00000368798.5:p.Ile85Leu
ENST00000365779.2:c.253A>C ENSP00000368796.1:p.Ile85Leu
ENST00000379484.9:c.253A>C ENSP00000368798.5:p.Ile85Leu
ENST00000465888.1:n.352A>C
NM_015884.3:c.253A>C NP_056968.1:p.Ile85Leu
NM_015884.4:c.253A>C MANE Select NP_056968.1:p.Ile85Leu