Canonical Allele Identifier: CA412561972
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863413T>G (hg19) chrX:g.21845295T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845295T>G , CM000685.2:g.21845295T>G GRCh38
NC_000023.10:g.21863413T>G , CM000685.1:g.21863413T>G GRCh37
NC_000023.9:g.21773334T>G NCBI36
NG_012797.1:g.10758T>G
NG_012797.2:g.10758T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.349T>G MANE Select ENSP00000368798.5:p.Ser117Ala
ENST00000365779.2:c.349T>G ENSP00000368796.1:p.Ser117Ala
ENST00000379484.9:c.349T>G ENSP00000368798.5:p.Ser117Ala
ENST00000465888.1:n.448T>G
NM_015884.3:c.349T>G NP_056968.1:p.Ser117Ala
NM_015884.4:c.349T>G MANE Select NP_056968.1:p.Ser117Ala
Search 100 bp 5'
Search 100 bp 3'