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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:
CA341872980
Gene: NOTCH2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1379128384
MyVariant Identifiers:
chr1:g.120458178C>G (hg19)
chr1:g.119915555C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.119915555C>G , CM000663.2:g.119915555C>G
GRCh38
NC_000001.10:g.120458178C>G , CM000663.1:g.120458178C>G
GRCh37
NC_000001.9:g.120259701C>G
NCBI36
NG_008163.1:g.159099G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000256646.7:c.7167G>C
MANE Select
ENSP00000256646.2:p.Gln2389His
ENST00000256646.6:c.7167G>C
ENSP00000256646.2:p.Gln2389His
NM_024408.3:c.7167G>C
NP_077719.2:p.Gln2389His
XM_005270901.2:c.7050G>C
XP_005270958.1:p.Gln2350His
XM_011541519.1:c.7155G>C
XP_011539821.1:p.Gln2385His
XM_011541520.1:c.7050G>C
XP_011539822.1:p.Gln2350His
NM_024408.4:c.7167G>C
MANE Select
NP_077719.2:p.Gln2389His
Search 100 bp 5'
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