Canonical Allele Identifier: CA515419235

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863316A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845198A>T , CM000685.2:g.21845198A>T	GRCh38
NC_000023.10:g.21863316A>T , CM000685.1:g.21863316A>T	GRCh37
NC_000023.9:g.21773237A>T	NCBI36
NG_012797.1:g.10661A>T
NG_012797.2:g.10661A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.252A>T MANE Select	ENSP00000368798.5:p.Val84=
ENST00000365779.2:c.252A>T	ENSP00000368796.1:p.Val84=
ENST00000379484.9:c.252A>T	ENSP00000368798.5:p.Val84=
ENST00000465888.1:n.351A>T
NM_015884.3:c.252A>T	NP_056968.1:p.Val84=
NM_015884.4:c.252A>T MANE Select	NP_056968.1:p.Val84=