Canonical Allele Identifier: CA515419506
Gene: MBTPS2 HGNC NCBI

Linked Data

gnomAD v4: X-21845372-G-A
MyVariant Identifiers: chrX:g.21863490G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845372G>A , CM000685.2:g.21845372G>A GRCh38
NC_000023.10:g.21863490G>A , CM000685.1:g.21863490G>A GRCh37
NC_000023.9:g.21773411G>A NCBI36
NG_012797.1:g.10835G>A
NG_012797.2:g.10835G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.426G>A MANE Select ENSP00000368798.5:p.Val142=
ENST00000365779.2:c.426G>A ENSP00000368796.1:p.Val142=
ENST00000379484.9:c.426G>A ENSP00000368798.5:p.Val142=
ENST00000465888.1:n.525G>A
NM_015884.3:c.426G>A NP_056968.1:p.Val142=
NM_015884.4:c.426G>A MANE Select NP_056968.1:p.Val142=
Search 100 bp 5'
Search 100 bp 3'