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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:
CA391325171
Gene: MAGEL2
HGNC
NCBI
Linked Data
COSMIC:
COSM6142086
MyVariant Identifiers:
chr15:g.23889722A>T (hg19)
chr15:g.23644575A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.23644575A>T , CM000677.2:g.23644575A>T
GRCh38
NC_000015.9:g.23889722A>T , CM000677.1:g.23889722A>T
GRCh37
NC_000015.8:g.21440815A>T
NCBI36
NG_016776.1:g.8272T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000650528.1:c.3168T>A
MANE Select
ENSP00000497810.1:p.Asp1056Glu
ENST00000532292.2:c.3168T>A
ENSP00000433433.2:p.Asp1056Glu
NM_019066.4:c.3168T>A
NP_061939.3:p.Asp1056Glu
NM_019066.5:c.3168T>A
MANE Select
NP_061939.3:p.Asp1056Glu
Search 100 bp 5'
Search 100 bp 3'