Canonical Allele Identifier: CA327502254
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs368198170
gnomAD v3: X-21845363-T-G
gnomAD v4: X-21845363-T-G
MyVariant Identifiers: chrX:g.21863481T>G (hg19) chrX:g.21845363T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845363T>G , CM000685.2:g.21845363T>G GRCh38
NC_000023.10:g.21863481T>G , CM000685.1:g.21863481T>G GRCh37
NC_000023.9:g.21773402T>G NCBI36
NG_012797.1:g.10826T>G
NG_012797.2:g.10826T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.417T>G MANE Select ENSP00000368798.5:p.Asn139Lys
ENST00000365779.2:c.417T>G ENSP00000368796.1:p.Asn139Lys
ENST00000379484.9:c.417T>G ENSP00000368798.5:p.Asn139Lys
ENST00000465888.1:n.516T>G
NM_015884.3:c.417T>G NP_056968.1:p.Asn139Lys
NM_015884.4:c.417T>G MANE Select NP_056968.1:p.Asn139Lys
Search 100 bp 5'
Search 100 bp 3'