Canonical Allele Identifier: CA68173818
Gene: AGXT HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.240869253C>T
GRCh37 chr2:g.241808670C>T
gnomAD v2:
2:241808670 C / T
gnomAD v4:
chr2-240869253-C-T
Joint Max Group AF 0.00000553 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
ClinVar RCV:
RCV005152590
ClinVar Variation:
3669230
dbSNP:
994750459
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869253C>T , CM000664.2:g.240869253C>T GRCh38
NC_000002.11:g.241808670C>T , CM000664.1:g.241808670C>T GRCh37
NC_000002.10:g.241457343C>T NCBI36
NG_008005.1:g.5509C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.249C>T MANE Select ENSP00000302620.3:p.His83=
ENST00000307503.3:c.249C>T ENSP00000302620.3:p.His83=
ENST00000472436.1:n.269C>T
NM_000030.2:c.249C>T NP_000021.1:p.His83=
XR_924060.1:n.405+980G>A
NM_000030.3:c.249C>T MANE Select NP_000021.1:p.His83=
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