Canonical Allele Identifier: CA515419223

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863301A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845183A>G , CM000685.2:g.21845183A>G	GRCh38
NC_000023.10:g.21863301A>G , CM000685.1:g.21863301A>G	GRCh37
NC_000023.9:g.21773222A>G	NCBI36
NG_012797.1:g.10646A>G
NG_012797.2:g.10646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.237A>G MANE Select	ENSP00000368798.5:p.Gly79=
ENST00000365779.2:c.237A>G	ENSP00000368796.1:p.Gly79=
ENST00000379484.9:c.237A>G	ENSP00000368798.5:p.Gly79=
ENST00000465888.1:n.336A>G
NM_015884.3:c.237A>G	NP_056968.1:p.Gly79=
NM_015884.4:c.237A>G MANE Select	NP_056968.1:p.Gly79=