Canonical Allele Identifier: CA412561751
Gene: MBTPS2 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.21863314G>C (hg19) chrX:g.21845196G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845196G>C , CM000685.2:g.21845196G>C GRCh38
NC_000023.10:g.21863314G>C , CM000685.1:g.21863314G>C GRCh37
NC_000023.9:g.21773235G>C NCBI36
NG_012797.1:g.10659G>C
NG_012797.2:g.10659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.250G>C MANE Select ENSP00000368798.5:p.Val84Leu
ENST00000365779.2:c.250G>C ENSP00000368796.1:p.Val84Leu
ENST00000379484.9:c.250G>C ENSP00000368798.5:p.Val84Leu
ENST00000465888.1:n.349G>C
NM_015884.3:c.250G>C NP_056968.1:p.Val84Leu
NM_015884.4:c.250G>C MANE Select NP_056968.1:p.Val84Leu
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