Canonical Allele Identifier: CA540536868
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2733126
ClinVar RCV Id: RCV003562009
dbSNP Id: rs1193432305
gnomAD v2: 2-241814513-T-G
gnomAD v4: 2-240875096-T-G
MyVariant Identifiers: chr2:g.241814513T>G (hg19) chr2:g.240875096T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875096T>G , CM000664.2:g.240875096T>G GRCh38
NC_000002.11:g.241814513T>G , CM000664.1:g.241814513T>G GRCh37
NC_000002.10:g.241463186T>G NCBI36
NG_008005.1:g.11352T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.681-13T>G MANE Select ENSP00000302620.3:n.681-13T>G
ENST00000307503.3:c.681-13T>G ENSP00000302620.3:n.681-13T>G
ENST00000476698.1:n.333-13T>G
NM_000030.2:c.681-13T>G NP_000021.1:n.681-13T>G
NM_000030.3:c.681-13T>G MANE Select NP_000021.1:n.681-13T>G
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