Canonical Allele Identifier: CA412561736
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863306T>G (hg19) chrX:g.21845188T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845188T>G , CM000685.2:g.21845188T>G GRCh38
NC_000023.10:g.21863306T>G , CM000685.1:g.21863306T>G GRCh37
NC_000023.9:g.21773227T>G NCBI36
NG_012797.1:g.10651T>G
NG_012797.2:g.10651T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.242T>G MANE Select ENSP00000368798.5:p.Val81Gly
ENST00000365779.2:c.242T>G ENSP00000368796.1:p.Val81Gly
ENST00000379484.9:c.242T>G ENSP00000368798.5:p.Val81Gly
ENST00000465888.1:n.341T>G
NM_015884.3:c.242T>G NP_056968.1:p.Val81Gly
NM_015884.4:c.242T>G MANE Select NP_056968.1:p.Val81Gly
Search 100 bp 5'
Search 100 bp 3'