Canonical Allele Identifier: CA2209012
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs764228128
ExAC: 2:241808539 T / C
gnomAD v2: 2-241808539-T-C
gnomAD v4: 2-240869122-T-C
MyVariant Identifiers: chr2:g.241808539T>C (hg19) chr2:g.241808539_241808547delinsCTGGGGAGG (hg19) chr2:g.240869122T>C (hg38) chr2:g.240869122_240869130delinsCTGGGGAGG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869122T>C , CM000664.2:g.240869122T>C GRCh38
NC_000002.11:g.241808539T>C , CM000664.1:g.241808539T>C GRCh37
NC_000002.10:g.241457212T>C NCBI36
NG_008005.1:g.5378T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.166-48T>C MANE Select ENSP00000302620.3:n.166-48T>C
ENST00000307503.3:c.166-48T>C ENSP00000302620.3:n.166-48T>C
ENST00000472436.1:n.186-48T>C
NM_000030.2:c.166-48T>C NP_000021.1:n.166-48T>C
XR_924060.1:n.405+1111A>G
NM_000030.3:c.166-48T>C MANE Select NP_000021.1:n.166-48T>C
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