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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:
CA275605
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204060
ClinVar RCV Id:
RCV000186266
RCV001753585
dbSNP Id:
rs151185188
ExAC:
2:241818201 G / A
gnomAD v2:
2-241818201-G-A
gnomAD v3:
2-240878784-G-A
gnomAD v4:
2-240878784-G-A
MyVariant Identifiers:
chr2:g.241818201G>A (hg19)
chr2:g.240878784G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240878784G>A , CM000664.2:g.240878784G>A
GRCh38
NC_000002.11:g.241818201G>A , CM000664.1:g.241818201G>A
GRCh37
NC_000002.10:g.241466874G>A
NCBI36
NG_008005.1:g.15040G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307503.4:c.1142G>A
MANE Select
ENSP00000302620.3:p.Arg381Lys
ENST00000307503.3:c.1142G>A
ENSP00000302620.3:p.Arg381Lys
ENST00000470255.1:n.920G>A
NM_000030.2:c.1142G>A
NP_000021.1:p.Arg381Lys
NM_000030.3:c.1142G>A
MANE Select
NP_000021.1:p.Arg381Lys
Search 100 bp 5'
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