Canonical Allele Identifier: CA1131573219
Gene: MBTPS2 HGNC NCBI

Linked Data

dbSNP Id: rs1337491993
gnomAD v3: X-21845315-T-TTCTTCC
gnomAD v4: X-21845315-T-TTCTTCC
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845327_21845332dup , CM000685.2:g.21845327_21845332dup GRCh38
NC_000023.10:g.21863445_21863450dup , CM000685.1:g.21863445_21863450dup GRCh37
NC_000023.9:g.21773366_21773371dup NCBI36
NG_012797.1:g.10790_10795dup
NG_012797.2:g.10790_10795dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.381_386dup MANE Select ENSP00000368798.5:p.Ser129_Ser130insSerSer
ENST00000365779.2:c.381_386dup ENSP00000368796.1:p.Ser129_Ser130insSerSer
ENST00000379484.9:c.381_386dup ENSP00000368798.5:p.Ser129_Ser130insSerSer
ENST00000465888.1:n.480_485dup
NM_015884.3:c.381_386dup NP_056968.1:p.Ser129_Ser130insSerSer
NM_015884.4:c.381_386dup MANE Select NP_056968.1:p.Ser129_Ser130insSerSer
Search 100 bp 5'
Search 100 bp 3'