Canonical Allele Identifier: CA68180598
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs761622783
gnomAD v3: 2-240877567-G-C
gnomAD v4: 2-240877567-G-C
COSMIC: COSM4561257
MyVariant Identifiers: chr2:g.241816984G>C (hg19) chr2:g.240877567G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877567G>C , CM000664.2:g.240877567G>C GRCh38
NC_000002.11:g.241816984G>C , CM000664.1:g.241816984G>C GRCh37
NC_000002.10:g.241465657G>C NCBI36
NG_008005.1:g.13823G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.877G>C MANE Select ENSP00000302620.3:p.Glu293Gln
ENST00000307503.3:c.877G>C ENSP00000302620.3:p.Glu293Gln
ENST00000470255.1:n.655G>C
NM_000030.2:c.877G>C NP_000021.1:p.Glu293Gln
NM_000030.3:c.877G>C MANE Select NP_000021.1:p.Glu293Gln
Search 100 bp 5'
Search 100 bp 3'