Canonical Allele Identifier: CA351313300
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs2058976103
gnomAD v3: 2-240869019-G-C
gnomAD v4: 2-240869019-G-C
MyVariant Identifiers: chr2:g.241808436G>C (hg19) chr2:g.240869019G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869019G>C , CM000664.2:g.240869019G>C GRCh38
NC_000002.11:g.241808436G>C , CM000664.1:g.241808436G>C GRCh37
NC_000002.10:g.241457109G>C NCBI36
NG_008005.1:g.5275G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.154G>C MANE Select ENSP00000302620.3:p.Asp52His
ENST00000307503.3:c.154G>C ENSP00000302620.3:p.Asp52His
ENST00000472436.1:n.174G>C
NM_000030.2:c.154G>C NP_000021.1:p.Asp52His
XR_924060.1:n.405+1214C>G
NM_000030.3:c.154G>C MANE Select NP_000021.1:p.Asp52His
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