Canonical Allele Identifier: CA68173239
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs565536002
gnomAD v3: 2-240868524-C-T
gnomAD v4: 2-240868524-C-T
MyVariant Identifiers: chr2:g.241807941C>T (hg19) chr2:g.240868524C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868524C>T , CM000664.2:g.240868524C>T GRCh38
NC_000002.11:g.241807941C>T , CM000664.1:g.241807941C>T GRCh37
NC_000002.10:g.241456614C>T NCBI36
NG_008005.1:g.4780C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.3:c.-342C>T ENSP00000302620.3:n.-342C>T
XR_924060.1:n.405+1709G>A
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