Canonical Allele Identifier: CA515419231
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863313C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845195C>G , CM000685.2:g.21845195C>G GRCh38
NC_000023.10:g.21863313C>G , CM000685.1:g.21863313C>G GRCh37
NC_000023.9:g.21773234C>G NCBI36
NG_012797.1:g.10658C>G
NG_012797.2:g.10658C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.249C>G MANE Select ENSP00000368798.5:p.Gly83=
ENST00000365779.2:c.249C>G ENSP00000368796.1:p.Gly83=
ENST00000379484.9:c.249C>G ENSP00000368798.5:p.Gly83=
ENST00000465888.1:n.348C>G
NM_015884.3:c.249C>G NP_056968.1:p.Gly83=
NM_015884.4:c.249C>G MANE Select NP_056968.1:p.Gly83=
Search 100 bp 5'
Search 100 bp 3'