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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:
CA274318
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189047
ClinVar RCV Id:
RCV000169439
RCV000816747
dbSNP Id:
rs180177239
ExAC:
2:241812439 G / A
gnomAD v2:
2-241812439-G-A
gnomAD v4:
2-240873022-G-A
COSMIC:
COSM574425
MyVariant Identifiers:
chr2:g.241812439G>A (hg19)
chr2:g.240873022G>A (hg38)
PubMed:
PMID:9604803
PMID:10541294
PMID:17460142
PMID:18282470
PMID:23810941
PMID:24988064
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240873022G>A , CM000664.2:g.240873022G>A
GRCh38
NC_000002.11:g.241812439G>A , CM000664.1:g.241812439G>A
GRCh37
NC_000002.10:g.241461112G>A
NCBI36
NG_008005.1:g.9278G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.568G>A
MANE Select
ENSP00000302620.3:p.Gly190Arg
ENST00000307503.3:c.568G>A
ENSP00000302620.3:p.Gly190Arg
ENST00000472436.1:n.588G>A
ENST00000476698.1:n.305G>A
NM_000030.2:c.568G>A
NP_000021.1:p.Gly190Arg
NM_000030.3:c.568G>A
MANE Select
NP_000021.1:p.Gly190Arg
Search 100 bp 5'
Search 100 bp 3'