Canonical Allele Identifier: CA515419371
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863394C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845276C>A , CM000685.2:g.21845276C>A GRCh38
NC_000023.10:g.21863394C>A , CM000685.1:g.21863394C>A GRCh37
NC_000023.9:g.21773315C>A NCBI36
NG_012797.1:g.10739C>A
NG_012797.2:g.10739C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.330C>A MANE Select ENSP00000368798.5:p.Pro110=
ENST00000365779.2:c.330C>A ENSP00000368796.1:p.Pro110=
ENST00000379484.9:c.330C>A ENSP00000368798.5:p.Pro110=
ENST00000465888.1:n.429C>A
NM_015884.3:c.330C>A NP_056968.1:p.Pro110=
NM_015884.4:c.330C>A MANE Select NP_056968.1:p.Pro110=
Search 100 bp 5'
Search 100 bp 3'