×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA340443
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5644
ClinVar RCV Id:
RCV000005998
RCV000662315
dbSNP Id:
rs121908523
ExAC:
2:241808403 G / A
gnomAD v2:
2-241808403-G-A
gnomAD v3:
2-240868986-G-A
gnomAD v4:
2-240868986-G-A
MyVariant Identifiers:
chr2:g.241808403G>A (hg19)
chr2:g.240868986G>A (hg38)
PubMed:
PMID:8101040
PMID:10960483
PMID:19155213
PMID:20301460
PMID:23229545
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240868986G>A , CM000664.2:g.240868986G>A
GRCh38
NC_000002.11:g.241808403G>A , CM000664.1:g.241808403G>A
GRCh37
NC_000002.10:g.241457076G>A
NCBI36
NG_008005.1:g.5242G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.121G>A
MANE Select
ENSP00000302620.3:p.Gly41Arg
ENST00000307503.3:c.121G>A
ENSP00000302620.3:p.Gly41Arg
ENST00000472436.1:n.141G>A
NM_000030.2:c.121G>A
NP_000021.1:p.Gly41Arg
XR_924060.1:n.405+1247C>T
NM_000030.3:c.121G>A
MANE Select
NP_000021.1:p.Gly41Arg
Search 100 bp 5'
Search 100 bp 3'