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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:
CA391271459
Gene: JAG2
HGNC
NCBI
Linked Data
gnomAD v4:
14-105150708-C-T
MyVariant Identifiers:
chr14:g.105617045C>T (hg19)
chr14:g.105150708C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.105150708C>T , CM000676.2:g.105150708C>T
GRCh38
NC_000014.8:g.105617045C>T , CM000676.1:g.105617045C>T
GRCh37
NC_000014.7:g.104688090C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000331782.8:c.1498G>A
MANE Select
ENSP00000328169.3:p.Asp500Asn
ENST00000331782.7:c.1498G>A
ENSP00000328169.3:p.Asp500Asn
ENST00000347004.2:c.1384G>A
ENSP00000328566.2:p.Asp462Asn
NM_002226.4:c.1498G>A
NP_002217.3:p.Asp500Asn
NM_145159.2:c.1384G>A
NP_660142.1:p.Asp462Asn
XM_011536736.1:c.1498G>A
XP_011535038.1:p.Asp500Asn
XR_001750303.2:n.1559G>A
NM_002226.5:c.1498G>A
MANE Select
NP_002217.3:p.Asp500Asn
NM_145159.3:c.1384G>A
NP_660142.1:p.Asp462Asn
Search 100 bp 5'
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