Canonical Allele Identifier: CA412561926
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863390C>G (hg19) chrX:g.21845272C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845272C>G , CM000685.2:g.21845272C>G GRCh38
NC_000023.10:g.21863390C>G , CM000685.1:g.21863390C>G GRCh37
NC_000023.9:g.21773311C>G NCBI36
NG_012797.1:g.10735C>G
NG_012797.2:g.10735C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.326C>G MANE Select ENSP00000368798.5:p.Ser109Cys
ENST00000365779.2:c.326C>G ENSP00000368796.1:p.Ser109Cys
ENST00000379484.9:c.326C>G ENSP00000368798.5:p.Ser109Cys
ENST00000465888.1:n.425C>G
NM_015884.3:c.326C>G NP_056968.1:p.Ser109Cys
NM_015884.4:c.326C>G MANE Select NP_056968.1:p.Ser109Cys
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