Canonical Allele Identifier: CA540752879
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs369645178
gnomAD v2: 2-241808472-G-T
gnomAD v4: 2-240869055-G-T
MyVariant Identifiers: chr2:g.241808472G>T (hg19) chr2:g.240869055G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869055G>T , CM000664.2:g.240869055G>T GRCh38
NC_000002.11:g.241808472G>T , CM000664.1:g.241808472G>T GRCh37
NC_000002.10:g.241457145G>T NCBI36
NG_008005.1:g.5311G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.165+25G>T MANE Select ENSP00000302620.3:n.165+25G>T
ENST00000307503.3:c.165+25G>T ENSP00000302620.3:n.165+25G>T
ENST00000472436.1:n.185+25G>T
NM_000030.2:c.165+25G>T NP_000021.1:n.165+25G>T
XR_924060.1:n.405+1178C>A
NM_000030.3:c.165+25G>T MANE Select NP_000021.1:n.165+25G>T
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