Canonical Allele Identifier: CA412562017
Gene: MBTPS2 HGNC NCBI

Linked Data

COSMIC: COSM270571

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845317C>G , CM000685.2:g.21845317C>G GRCh38
NC_000023.10:g.21863435C>G , CM000685.1:g.21863435C>G GRCh37
NC_000023.9:g.21773356C>G NCBI36
NG_012797.1:g.10780C>G
NG_012797.2:g.10780C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.371C>G MANE Select ENSP00000368798.5:p.Ser124Cys
ENST00000365779.2:c.371C>G ENSP00000368796.1:p.Ser124Cys
ENST00000379484.9:c.371C>G ENSP00000368798.5:p.Ser124Cys
ENST00000465888.1:n.470C>G
NM_015884.3:c.371C>G NP_056968.1:p.Ser124Cys
NM_015884.4:c.371C>G MANE Select NP_056968.1:p.Ser124Cys