×
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:
CA2209368
Gene: AGXT
HGNC
NCBI
Linked Data
dbSNP Id:
rs776153602
ExAC:
2:241817481 G / A
gnomAD v2:
2-241817481-G-A
gnomAD v4:
2-240878064-G-A
MyVariant Identifiers:
chr2:g.241817481G>A (hg19)
chr2:g.240878064G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240878064G>A , CM000664.2:g.240878064G>A
GRCh38
NC_000002.11:g.241817481G>A , CM000664.1:g.241817481G>A
GRCh37
NC_000002.10:g.241466154G>A
NCBI36
NG_008005.1:g.14320G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.985G>A
MANE Select
ENSP00000302620.3:p.Gly329Ser
ENST00000307503.3:c.985G>A
ENSP00000302620.3:p.Gly329Ser
ENST00000470255.1:n.763G>A
NM_000030.2:c.985G>A
NP_000021.1:p.Gly329Ser
NM_000030.3:c.985G>A
MANE Select
NP_000021.1:p.Gly329Ser
Search 100 bp 5'
Search 100 bp 3'