Canonical Allele Identifier: CA121439
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 11402
ClinVar RCV Id: RCV000012155
dbSNP Id: rs122468176

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21868476A>T , CM000685.2:g.21868476A>T GRCh38
NC_000023.10:g.21886594A>T , CM000685.1:g.21886594A>T GRCh37
NC_000023.9:g.21796515A>T NCBI36
NG_012797.1:g.33939A>T
NG_012797.2:g.33939A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379484.10:c.680A>T MANE Select ENSP00000368798.5:p.His227Leu
ENST00000365779.2:c.680A>T ENSP00000368796.1:p.His227Leu
ENST00000379484.9:c.680A>T ENSP00000368798.5:p.His227Leu
NM_015884.3:c.680A>T NP_056968.1:p.His227Leu
NM_015884.4:c.680A>T MANE Select NP_056968.1:p.His227Leu