Canonical Allele Identifier: CA412561849
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863359A>T (hg19) chrX:g.21845241A>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.295A>T MANE Select ENSP00000368798.5:p.Met99Leu
ENST00000365779.2:c.295A>T ENSP00000368796.1:p.Met99Leu
ENST00000379484.9:c.295A>T ENSP00000368798.5:p.Met99Leu
ENST00000465888.1:n.394A>T
NM_015884.3:c.295A>T NP_056968.1:p.Met99Leu
NM_015884.4:c.295A>T MANE Select NP_056968.1:p.Met99Leu
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