Canonical Allele Identifier: CA412561963

Gene: MBTPS2

Linked Data

• MyVariant Identifiers: chrX:g.21863408C>T (hg19) ; chrX:g.21845290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845290C>T , CM000685.2:g.21845290C>T	GRCh38
NC_000023.10:g.21863408C>T , CM000685.1:g.21863408C>T	GRCh37
NC_000023.9:g.21773329C>T	NCBI36
NG_012797.1:g.10753C>T
NG_012797.2:g.10753C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.344C>T MANE Select	ENSP00000368798.5:p.Ser115Phe
ENST00000365779.2:c.344C>T	ENSP00000368796.1:p.Ser115Phe
ENST00000379484.9:c.344C>T	ENSP00000368798.5:p.Ser115Phe
ENST00000465888.1:n.443C>T
NM_015884.3:c.344C>T	NP_056968.1:p.Ser115Phe
NM_015884.4:c.344C>T MANE Select	NP_056968.1:p.Ser115Phe