Canonical Allele Identifier: CA2419080872
Gene: MBTPS2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845333_21845336delinsTTCA , CM000685.2:g.21845333_21845336delinsTTCA GRCh38
NC_000023.10:g.21863451_21863454delinsTTCA , CM000685.1:g.21863451_21863454delinsTTCA GRCh37
NC_000023.9:g.21773372_21773375delinsTTCA NCBI36
NG_012797.1:g.10796_10799delinsTTCA
NG_012797.2:g.10796_10799delinsTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.387_390delinsTTCA MANE Select ENSP00000368798.5:p.Ser129=
ENST00000365779.2:c.387_390delinsTTCA ENSP00000368796.1:p.Ser129=
ENST00000379484.9:c.387_390delinsTTCA ENSP00000368798.5:p.Ser129=
ENST00000465888.1:n.486_489delinsTTCA
NM_015884.3:c.387_390delinsTTCA NP_056968.1:p.Ser129=
NM_015884.4:c.387_390delinsTTCA MANE Select NP_056968.1:p.Ser129=
Search 100 bp 5'
Search 100 bp 3'