Canonical Allele Identifier: CA68173354
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs887556752
gnomAD v4: 2-240868782-T-C
MyVariant Identifiers: chr2:g.241808199T>C (hg19) chr2:g.240868782T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868782T>C , CM000664.2:g.240868782T>C GRCh38
NC_000002.11:g.241808199T>C , CM000664.1:g.241808199T>C GRCh37
NC_000002.10:g.241456872T>C NCBI36
NG_008005.1:g.5038T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.3:c.-84T>C ENSP00000302620.3:n.-84T>C
NM_000030.2:c.-84T>C NP_000021.1:n.-84T>C
XR_924060.1:n.405+1451A>G
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