Canonical Allele Identifier: CA10367330
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs758052304
ExAC: X:21863396 C / T
gnomAD v2: X-21863396-C-T
gnomAD v3: X-21845278-C-T
gnomAD v4: X-21845278-C-T
MyVariant Identifiers: chrX:g.21863396C>T (hg19) chrX:g.21845278C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845278C>T , CM000685.2:g.21845278C>T GRCh38
NC_000023.10:g.21863396C>T , CM000685.1:g.21863396C>T GRCh37
NC_000023.9:g.21773317C>T NCBI36
NG_012797.1:g.10741C>T
NG_012797.2:g.10741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.332C>T MANE Select ENSP00000368798.5:p.Ser111Phe
ENST00000365779.2:c.332C>T ENSP00000368796.1:p.Ser111Phe
ENST00000379484.9:c.332C>T ENSP00000368798.5:p.Ser111Phe
ENST00000465888.1:n.431C>T
NM_015884.3:c.332C>T NP_056968.1:p.Ser111Phe
NM_015884.4:c.332C>T MANE Select NP_056968.1:p.Ser111Phe
Search 100 bp 5'
Search 100 bp 3'