Canonical Allele Identifier: CA10367329
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1900485
ClinVar RCV Id: RCV002571061
dbSNP Id: rs750731000
ExAC: X:21863391 T / C
gnomAD v2: X-21863391-T-C
gnomAD v3: X-21845273-T-C
gnomAD v4: X-21845273-T-C
MyVariant Identifiers: chrX:g.21863391T>C (hg19) chrX:g.21845273T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845273T>C , CM000685.2:g.21845273T>C GRCh38
NC_000023.10:g.21863391T>C , CM000685.1:g.21863391T>C GRCh37
NC_000023.9:g.21773312T>C NCBI36
NG_012797.1:g.10736T>C
NG_012797.2:g.10736T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.327T>C MANE Select ENSP00000368798.5:p.Ser109=
ENST00000365779.2:c.327T>C ENSP00000368796.1:p.Ser109=
ENST00000379484.9:c.327T>C ENSP00000368798.5:p.Ser109=
ENST00000465888.1:n.426T>C
NM_015884.3:c.327T>C NP_056968.1:p.Ser109=
NM_015884.4:c.327T>C MANE Select NP_056968.1:p.Ser109=
Search 100 bp 5'
Search 100 bp 3'