Canonical Allele Identifier: CA412561872
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863369T>A (hg19) chrX:g.21845251T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845251T>A , CM000685.2:g.21845251T>A GRCh38
NC_000023.10:g.21863369T>A , CM000685.1:g.21863369T>A GRCh37
NC_000023.9:g.21773290T>A NCBI36
NG_012797.1:g.10714T>A
NG_012797.2:g.10714T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.305T>A MANE Select ENSP00000368798.5:p.Leu102Ter
ENST00000365779.2:c.305T>A ENSP00000368796.1:p.Leu102Ter
ENST00000379484.9:c.305T>A ENSP00000368798.5:p.Leu102Ter
ENST00000465888.1:n.404T>A
NM_015884.3:c.305T>A NP_056968.1:p.Leu102Ter
NM_015884.4:c.305T>A MANE Select NP_056968.1:p.Leu102Ter
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