Canonical Allele Identifier: CA412562120
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863486A>C (hg19) chrX:g.21845368A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845368A>C , CM000685.2:g.21845368A>C GRCh38
NC_000023.10:g.21863486A>C , CM000685.1:g.21863486A>C GRCh37
NC_000023.9:g.21773407A>C NCBI36
NG_012797.1:g.10831A>C
NG_012797.2:g.10831A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.422A>C MANE Select ENSP00000368798.5:p.Gln141Pro
ENST00000365779.2:c.422A>C ENSP00000368796.1:p.Gln141Pro
ENST00000379484.9:c.422A>C ENSP00000368798.5:p.Gln141Pro
ENST00000465888.1:n.521A>C
NM_015884.3:c.422A>C NP_056968.1:p.Gln141Pro
NM_015884.4:c.422A>C MANE Select NP_056968.1:p.Gln141Pro
Search 100 bp 5'
Search 100 bp 3'