Canonical Allele Identifier: CA412561848
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863359A>G (hg19) chrX:g.21845241A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845241A>G , CM000685.2:g.21845241A>G GRCh38
NC_000023.10:g.21863359A>G , CM000685.1:g.21863359A>G GRCh37
NC_000023.9:g.21773280A>G NCBI36
NG_012797.1:g.10704A>G
NG_012797.2:g.10704A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.295A>G MANE Select ENSP00000368798.5:p.Met99Val
ENST00000365779.2:c.295A>G ENSP00000368796.1:p.Met99Val
ENST00000379484.9:c.295A>G ENSP00000368798.5:p.Met99Val
ENST00000465888.1:n.394A>G
NM_015884.3:c.295A>G NP_056968.1:p.Met99Val
NM_015884.4:c.295A>G MANE Select NP_056968.1:p.Met99Val
Search 100 bp 5'
Search 100 bp 3'