Canonical Allele Identifier: CA412570475
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21900640T>A (hg19) chrX:g.21882522T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21882522T>A , CM000685.2:g.21882522T>A GRCh38
NC_000023.10:g.21900640T>A , CM000685.1:g.21900640T>A GRCh37
NC_000023.9:g.21810561T>A NCBI36
NG_012797.1:g.47985T>A
NG_012797.2:g.47985T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000379484.10:c.1427T>A MANE Select ENSP00000368798.5:p.Leu476Ter
ENST00000379484.9:c.1427T>A ENSP00000368798.5:p.Leu476Ter
NM_015884.3:c.1427T>A NP_056968.1:p.Leu476Ter
NM_015884.4:c.1427T>A MANE Select NP_056968.1:p.Leu476Ter
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