Canonical Allele Identifier: CA2580100457

Gene: MBTPS2

Linked Data

• ClinVar Variation Id: 2127698
• ClinVar RCV Id: RCV003035965

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.21845312_21845347dup , CM000685.2:g.21845312_21845347dup	GRCh38
NC_000023.10:g.21863430_21863465dup , CM000685.1:g.21863430_21863465dup	GRCh37
NC_000023.9:g.21773351_21773386dup	NCBI36
NG_012797.1:g.10775_10810dup
NG_012797.2:g.10775_10810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379484.10:c.366_401dup MANE Select	ENSP00000368798.5:p.Ser134_Ser135insSerSerSerSerSerSerSerSerS...
ENST00000365779.2:c.366_401dup	ENSP00000368796.1:p.Ser134_Ser135insSerSerSerSerSerSerSerSerS...
ENST00000379484.9:c.366_401dup	ENSP00000368798.5:p.Ser134_Ser135insSerSerSerSerSerSerSerSerS...
ENST00000465888.1:n.465_500dup
NM_015884.3:c.366_401dup	NP_056968.1:p.Ser134_Ser135insSerSerSerSerSerSerSerSerSerSerS...
NM_015884.4:c.366_401dup MANE Select	NP_056968.1:p.Ser134_Ser135insSerSerSerSerSerSerSerSerSerSerS...