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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:
CA274270
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189021
ClinVar RCV Id:
RCV001236818
RCV001814082
dbSNP Id:
rs180177207
gnomAD v2:
2-241808767-G-A
gnomAD v3:
2-240869350-G-A
gnomAD v4:
2-240869350-G-A
MyVariant Identifiers:
chr2:g.241808767G>A (hg19)
chr2:g.240869350G>A (hg38)
PubMed:
PMID:10394939
PMID:10453743
PMID:11562405
PMID:17460142
PMID:24988064
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869350G>A , CM000664.2:g.240869350G>A
GRCh38
NC_000002.11:g.241808767G>A , CM000664.1:g.241808767G>A
GRCh37
NC_000002.10:g.241457440G>A
NCBI36
NG_008005.1:g.5606G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.346G>A
MANE Select
ENSP00000302620.3:p.Gly116Arg
ENST00000307503.3:c.346G>A
ENSP00000302620.3:p.Gly116Arg
ENST00000472436.1:n.366G>A
NM_000030.2:c.346G>A
NP_000021.1:p.Gly116Arg
XR_924060.1:n.405+883C>T
NM_000030.3:c.346G>A
MANE Select
NP_000021.1:p.Gly116Arg
Search 100 bp 5'
Search 100 bp 3'