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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:
CA10456609
Gene: MAGEE2
HGNC
NCBI
Linked Data
dbSNP Id:
rs781624242
ExAC:
X:75004540 T / A
gnomAD v2:
X-75004540-T-A
gnomAD v4:
X-75784705-T-A
MyVariant Identifiers:
chrX:g.75004540T>A (hg19)
chrX:g.75784705T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.75784705T>A , CM000685.2:g.75784705T>A
GRCh38
NC_000023.10:g.75004540T>A , CM000685.1:g.75004540T>A
GRCh37
NC_000023.9:g.74921265T>A
NCBI36
NG_021324.1:g.5540A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000373359.4:c.347A>T
MANE Select
ENSP00000362457.2:p.Glu116Val
ENST00000373359.3:c.347A>T
ENSP00000362457.2:p.Glu116Val
NM_138703.4:c.347A>T
NP_619648.1:p.Glu116Val
XR_001755892.1:n.449-6587T>A
XR_001755894.1:n.449-6977T>A
NM_138703.5:c.347A>T
MANE Select
NP_619648.1:p.Glu116Val
Search 100 bp 5'
Search 100 bp 3'