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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:
CA413686522
Gene: MAGEE2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2087876255
COSMIC:
COSM3914244
MyVariant Identifiers:
chrX:g.75004535G>A (hg19)
chrX:g.75784700G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.75784700G>A , CM000685.2:g.75784700G>A
GRCh38
NC_000023.10:g.75004535G>A , CM000685.1:g.75004535G>A
GRCh37
NC_000023.9:g.74921260G>A
NCBI36
NG_021324.1:g.5545C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373359.4:c.352C>T
MANE Select
ENSP00000362457.2:p.Leu118Phe
ENST00000373359.3:c.352C>T
ENSP00000362457.2:p.Leu118Phe
NM_138703.4:c.352C>T
NP_619648.1:p.Leu118Phe
XR_001755892.1:n.449-6592G>A
XR_001755894.1:n.449-6982G>A
NM_138703.5:c.352C>T
MANE Select
NP_619648.1:p.Leu118Phe
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