Canonical Allele Identifier: CA351313529
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2681156
ClinVar RCV Id: RCV003468681
MyVariant Identifiers: chr2:g.241808663C>G (hg19) chr2:g.240869246C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869246C>G , CM000664.2:g.240869246C>G GRCh38
NC_000002.11:g.241808663C>G , CM000664.1:g.241808663C>G GRCh37
NC_000002.10:g.241457336C>G NCBI36
NG_008005.1:g.5502C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.242C>G MANE Select ENSP00000302620.3:p.Ser81Trp
ENST00000307503.3:c.242C>G ENSP00000302620.3:p.Ser81Trp
ENST00000472436.1:n.262C>G
NM_000030.2:c.242C>G NP_000021.1:p.Ser81Trp
XR_924060.1:n.405+987G>C
NM_000030.3:c.242C>G MANE Select NP_000021.1:p.Ser81Trp
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