Canonical Allele Identifier: CA515419451
Gene: MBTPS2 HGNC NCBI

Linked Data

gnomAD v4: X-21845333-T-G
MyVariant Identifiers: chrX:g.21863451T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845333T>G , CM000685.2:g.21845333T>G GRCh38
NC_000023.10:g.21863451T>G , CM000685.1:g.21863451T>G GRCh37
NC_000023.9:g.21773372T>G NCBI36
NG_012797.1:g.10796T>G
NG_012797.2:g.10796T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.387T>G MANE Select ENSP00000368798.5:p.Ser129=
ENST00000365779.2:c.387T>G ENSP00000368796.1:p.Ser129=
ENST00000379484.9:c.387T>G ENSP00000368798.5:p.Ser129=
ENST00000465888.1:n.486T>G
NM_015884.3:c.387T>G NP_056968.1:p.Ser129=
NM_015884.4:c.387T>G MANE Select NP_056968.1:p.Ser129=
Search 100 bp 5'
Search 100 bp 3'