Canonical Allele Identifier: CA351319083
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 3097510
ClinVar RCV Id: RCV004387344
gnomAD v4: 2-240877549-A-G
MyVariant Identifiers: chr2:g.241816966A>G (hg19) chr2:g.240877549A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877549A>G , CM000664.2:g.240877549A>G GRCh38
NC_000002.11:g.241816966A>G , CM000664.1:g.241816966A>G GRCh37
NC_000002.10:g.241465639A>G NCBI36
NG_008005.1:g.13805A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.859A>G MANE Select ENSP00000302620.3:p.Ser287Gly
ENST00000307503.3:c.859A>G ENSP00000302620.3:p.Ser287Gly
ENST00000470255.1:n.637A>G
NM_000030.2:c.859A>G NP_000021.1:p.Ser287Gly
NM_000030.3:c.859A>G MANE Select NP_000021.1:p.Ser287Gly
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Search 100 bp 3'