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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:
CA340442
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5643
ClinVar RCV Id:
RCV001851685
RCV003234894
dbSNP Id:
rs121908522
ExAC:
2:241808666 G / A
gnomAD v2:
2-241808666-G-A
gnomAD v4:
2-240869249-G-A
MyVariant Identifiers:
chr2:g.241808666G>A (hg19)
chr2:g.240869249G>A (hg38)
PubMed:
PMID:1349575
PMID:10960483
PMID:17696873
PMID:18282470
PMID:20301460
PMID:24988064
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869249G>A , CM000664.2:g.240869249G>A
GRCh38
NC_000002.11:g.241808666G>A , CM000664.1:g.241808666G>A
GRCh37
NC_000002.10:g.241457339G>A
NCBI36
NG_008005.1:g.5505G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.245G>A
MANE Select
ENSP00000302620.3:p.Gly82Glu
ENST00000307503.3:c.245G>A
ENSP00000302620.3:p.Gly82Glu
ENST00000472436.1:n.265G>A
NM_000030.2:c.245G>A
NP_000021.1:p.Gly82Glu
XR_924060.1:n.405+984C>T
NM_000030.3:c.245G>A
MANE Select
NP_000021.1:p.Gly82Glu
Search 100 bp 5'
Search 100 bp 3'