Canonical Allele Identifier: CA351318292
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2664132
ClinVar RCV Id: RCV003445278
dbSNP Id: rs1430414907
gnomAD v3: 2-240875937-A-G
gnomAD v4: 2-240875937-A-G
MyVariant Identifiers: chr2:g.241815354A>G (hg19) chr2:g.240875937A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875937A>G , CM000664.2:g.240875937A>G GRCh38
NC_000002.11:g.241815354A>G , CM000664.1:g.241815354A>G GRCh37
NC_000002.10:g.241464027A>G NCBI36
NG_008005.1:g.12193A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.779A>G MANE Select ENSP00000302620.3:p.Tyr260Cys
ENST00000307503.3:c.779A>G ENSP00000302620.3:p.Tyr260Cys
ENST00000476698.1:n.431A>G
NM_000030.2:c.779A>G NP_000021.1:p.Tyr260Cys
NM_000030.3:c.779A>G MANE Select NP_000021.1:p.Tyr260Cys
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Search 100 bp 3'