Canonical Allele Identifier: CA540538973
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1435625865
gnomAD v2: 2-241818285-C-T
gnomAD v4: 2-240878868-C-T
MyVariant Identifiers: chr2:g.241818285C>T (hg19) chr2:g.240878868C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878868C>T , CM000664.2:g.240878868C>T GRCh38
NC_000002.11:g.241818285C>T , CM000664.1:g.241818285C>T GRCh37
NC_000002.10:g.241466958C>T NCBI36
NG_008005.1:g.15124C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.*47C>T MANE Select ENSP00000302620.3:n.*47C>T
ENST00000307503.3:c.*47C>T ENSP00000302620.3:n.*47C>T
ENST00000470255.1:n.1004C>T
NM_000030.2:c.*47C>T NP_000021.1:n.*47C>T
NM_000030.3:c.*47C>T MANE Select NP_000021.1:n.*47C>T
Search 100 bp 5'
Search 100 bp 3'