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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:
CA351313452
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1378865
ClinVar RCV Id:
RCV001883482
dbSNP Id:
rs113879010
gnomAD v2:
2-241808636-A-T
gnomAD v4:
2-240869219-A-T
MyVariant Identifiers:
chr2:g.241808636A>T (hg19)
chr2:g.240869219A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869219A>T , CM000664.2:g.240869219A>T
GRCh38
NC_000002.11:g.241808636A>T , CM000664.1:g.241808636A>T
GRCh37
NC_000002.10:g.241457309A>T
NCBI36
NG_008005.1:g.5475A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.215A>T
MANE Select
ENSP00000302620.3:p.Asn72Ile
ENST00000307503.3:c.215A>T
ENSP00000302620.3:p.Asn72Ile
ENST00000472436.1:n.235A>T
NM_000030.2:c.215A>T
NP_000021.1:p.Asn72Ile
XR_924060.1:n.405+1014T>A
NM_000030.3:c.215A>T
MANE Select
NP_000021.1:p.Asn72Ile
Search 100 bp 5'
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