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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA412570480
Gene: MBTPS2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.21900641G>C (hg19)
chrX:g.21882523G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.21882523G>C , CM000685.2:g.21882523G>C
GRCh38
NC_000023.10:g.21900641G>C , CM000685.1:g.21900641G>C
GRCh37
NC_000023.9:g.21810562G>C
NCBI36
NG_012797.1:g.47986G>C
NG_012797.2:g.47986G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000379484.10:c.1428G>C
MANE Select
ENSP00000368798.5:p.Leu476Phe
ENST00000379484.9:c.1428G>C
ENSP00000368798.5:p.Leu476Phe
NM_015884.3:c.1428G>C
NP_056968.1:p.Leu476Phe
NM_015884.4:c.1428G>C
MANE Select
NP_056968.1:p.Leu476Phe
Search 100 bp 5'
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