Canonical Allele Identifier: CA2209068
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs765749131
ExAC: 2:241808818 TC / T
gnomAD v2: 2-241808818-TC-T
gnomAD v3: 2-240869401-TC-T
gnomAD v4: 2-240869401-TC-T
MyVariant Identifiers: chr2:g.241808819del (hg19) chr2:g.240869402del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869403del , CM000664.2:g.240869403del GRCh38
NC_000002.11:g.241808820del , CM000664.1:g.241808820del GRCh37
NC_000002.10:g.241457493del NCBI36
NG_008005.1:g.5659del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.358+41del MANE Select ENSP00000302620.3:n.358+41del
ENST00000307503.3:c.358+41del ENSP00000302620.3:n.358+41del
ENST00000472436.1:n.378+41del
NM_000030.2:c.358+41del NP_000021.1:n.358+41del
XR_924060.1:n.405+831del
NM_000030.3:c.358+41del MANE Select NP_000021.1:n.358+41del
Search 100 bp 5'
Search 100 bp 3'