Canonical Allele Identifier: CA412561705
Gene: MBTPS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845176A>T , CM000685.2:g.21845176A>T GRCh38
NC_000023.10:g.21863294A>T , CM000685.1:g.21863294A>T GRCh37
NC_000023.9:g.21773215A>T NCBI36
NG_012797.1:g.10639A>T
NG_012797.2:g.10639A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.230A>T MANE Select ENSP00000368798.5:p.Asn77Ile
ENST00000365779.2:c.230A>T ENSP00000368796.1:p.Asn77Ile
ENST00000379484.9:c.230A>T ENSP00000368798.5:p.Asn77Ile
ENST00000465888.1:n.329A>T
NM_015884.3:c.230A>T NP_056968.1:p.Asn77Ile
NM_015884.4:c.230A>T MANE Select NP_056968.1:p.Asn77Ile