Canonical Allele Identifier: CA515419270

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863343C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845225C>G , CM000685.2:g.21845225C>G	GRCh38
NC_000023.10:g.21863343C>G , CM000685.1:g.21863343C>G	GRCh37
NC_000023.9:g.21773264C>G	NCBI36
NG_012797.1:g.10688C>G
NG_012797.2:g.10688C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.279C>G MANE Select	ENSP00000368798.5:p.Leu93=
ENST00000365779.2:c.279C>G	ENSP00000368796.1:p.Leu93=
ENST00000379484.9:c.279C>G	ENSP00000368798.5:p.Leu93=
ENST00000465888.1:n.378C>G
NM_015884.3:c.279C>G	NP_056968.1:p.Leu93=
NM_015884.4:c.279C>G MANE Select	NP_056968.1:p.Leu93=