Canonical Allele Identifier: CA10367325
Gene: MBTPS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521430
dbSNP Id: rs199974151
gnomAD v2: X-21863354-C-T
gnomAD v3: X-21845236-C-T
gnomAD v4: X-21845236-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.21845236C>T , CM000685.2:g.21845236C>T GRCh38
NC_000023.10:g.21863354C>T , CM000685.1:g.21863354C>T GRCh37
NC_000023.9:g.21773275C>T NCBI36
NG_012797.1:g.10699C>T
NG_012797.2:g.10699C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379484.10:c.290C>T MANE Select ENSP00000368798.5:p.Thr97Met
ENST00000365779.2:c.290C>T ENSP00000368796.1:p.Thr97Met
ENST00000379484.9:c.290C>T ENSP00000368798.5:p.Thr97Met
ENST00000465888.1:n.389C>T
NM_015884.3:c.290C>T NP_056968.1:p.Thr97Met
NM_015884.4:c.290C>T MANE Select NP_056968.1:p.Thr97Met