Canonical Allele Identifier: CA412561901
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3124149
ClinVar RCV Id: RCV004419025
MyVariant Identifiers: chrX:g.21863380A>G (hg19) chrX:g.21845262A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845262A>G , CM000685.2:g.21845262A>G GRCh38
NC_000023.10:g.21863380A>G , CM000685.1:g.21863380A>G GRCh37
NC_000023.9:g.21773301A>G NCBI36
NG_012797.1:g.10725A>G
NG_012797.2:g.10725A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.316A>G MANE Select ENSP00000368798.5:p.Met106Val
ENST00000365779.2:c.316A>G ENSP00000368796.1:p.Met106Val
ENST00000379484.9:c.316A>G ENSP00000368798.5:p.Met106Val
ENST00000465888.1:n.415A>G
NM_015884.3:c.316A>G NP_056968.1:p.Met106Val
NM_015884.4:c.316A>G MANE Select NP_056968.1:p.Met106Val
Search 100 bp 5'
Search 100 bp 3'