Canonical Allele Identifier: CA412562106
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1962290
ClinVar RCV Id: RCV002726028
dbSNP Id: rs1186093893
gnomAD v4: X-21845362-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845362A>G , CM000685.2:g.21845362A>G GRCh38
NC_000023.10:g.21863480A>G , CM000685.1:g.21863480A>G GRCh37
NC_000023.9:g.21773401A>G NCBI36
NG_012797.1:g.10825A>G
NG_012797.2:g.10825A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.416A>G MANE Select ENSP00000368798.5:p.Asn139Ser
ENST00000365779.2:c.416A>G ENSP00000368796.1:p.Asn139Ser
ENST00000379484.9:c.416A>G ENSP00000368798.5:p.Asn139Ser
ENST00000465888.1:n.515A>G
NM_015884.3:c.416A>G NP_056968.1:p.Asn139Ser
NM_015884.4:c.416A>G MANE Select NP_056968.1:p.Asn139Ser