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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:
CA275638
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204077
ClinVar RCV Id:
RCV000186283
dbSNP Id:
rs180177180
ExAC:
2:241808588 T / A
gnomAD v2:
2-241808588-T-A
gnomAD v4:
2-240869171-T-A
MyVariant Identifiers:
chr2:g.241808588T>A (hg19)
chr2:g.240869171T>A (hg38)
PubMed:
PMID:19479957
PMID:24718375
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869171T>A , CM000664.2:g.240869171T>A
GRCh38
NC_000002.11:g.241808588T>A , CM000664.1:g.241808588T>A
GRCh37
NC_000002.10:g.241457261T>A
NCBI36
NG_008005.1:g.5427T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.167T>A
MANE Select
ENSP00000302620.3:p.Ile56Asn
ENST00000307503.3:c.167T>A
ENSP00000302620.3:p.Ile56Asn
ENST00000472436.1:n.187T>A
NM_000030.2:c.167T>A
NP_000021.1:p.Ile56Asn
XR_924060.1:n.405+1062A>T
NM_000030.3:c.167T>A
MANE Select
NP_000021.1:p.Ile56Asn
Search 100 bp 5'
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