Canonical Allele Identifier: CA10367341
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs777721295
ExAC: X:21863444 C / T
gnomAD v2: X-21863444-C-T
MyVariant Identifiers: chrX:g.21863444C>T (hg19) chrX:g.21845326C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845326C>T , CM000685.2:g.21845326C>T GRCh38
NC_000023.10:g.21863444C>T , CM000685.1:g.21863444C>T GRCh37
NC_000023.9:g.21773365C>T NCBI36
NG_012797.1:g.10789C>T
NG_012797.2:g.10789C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.380C>T MANE Select ENSP00000368798.5:p.Ser127Phe
ENST00000365779.2:c.380C>T ENSP00000368796.1:p.Ser127Phe
ENST00000379484.9:c.380C>T ENSP00000368798.5:p.Ser127Phe
ENST00000465888.1:n.479C>T
NM_015884.3:c.380C>T NP_056968.1:p.Ser127Phe
NM_015884.4:c.380C>T MANE Select NP_056968.1:p.Ser127Phe
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