Canonical Allele Identifier: CA351313260
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs74205173
gnomAD v4: 2-240869010-A-G
MyVariant Identifiers: chr2:g.241808427A>G (hg19) chr2:g.240869010A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869010A>G , CM000664.2:g.240869010A>G GRCh38
NC_000002.11:g.241808427A>G , CM000664.1:g.241808427A>G GRCh37
NC_000002.10:g.241457100A>G NCBI36
NG_008005.1:g.5266A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.145A>G MANE Select ENSP00000302620.3:p.Met49Val
ENST00000307503.3:c.145A>G ENSP00000302620.3:p.Met49Val
ENST00000472436.1:n.165A>G
NM_000030.2:c.145A>G NP_000021.1:p.Met49Val
XR_924060.1:n.405+1223T>C
NM_000030.3:c.145A>G MANE Select NP_000021.1:p.Met49Val
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