Canonical Allele Identifier: CA10367322
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs775712588
ExAC: X:21863323 A / T
MyVariant Identifiers: chrX:g.21863323A>T (hg19) chrX:g.21845205A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845205A>T , CM000685.2:g.21845205A>T GRCh38
NC_000023.10:g.21863323A>T , CM000685.1:g.21863323A>T GRCh37
NC_000023.9:g.21773244A>T NCBI36
NG_012797.1:g.10668A>T
NG_012797.2:g.10668A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.259A>T MANE Select ENSP00000368798.5:p.Met87Leu
ENST00000365779.2:c.259A>T ENSP00000368796.1:p.Met87Leu
ENST00000379484.9:c.259A>T ENSP00000368798.5:p.Met87Leu
ENST00000465888.1:n.358A>T
NM_015884.3:c.259A>T NP_056968.1:p.Met87Leu
NM_015884.4:c.259A>T MANE Select NP_056968.1:p.Met87Leu
Search 100 bp 5'
Search 100 bp 3'