Canonical Allele Identifier: CA540537907
Gene: AGXT HGNC NCBI

Linked Data

gnomAD v2: 2-241816560-CG-C
gnomAD v4: 2-240877143-CG-C
MyVariant Identifiers: chr2:g.241816561del (hg19) chr2:g.240877144del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877148del , CM000664.2:g.240877148del GRCh38
NC_000002.11:g.241816565del , CM000664.1:g.241816565del GRCh37
NC_000002.10:g.241465238del NCBI36
NG_008005.1:g.13404del

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-389del MANE Select ENSP00000302620.3:n.847-389del
ENST00000307503.3:c.847-389del ENSP00000302620.3:n.847-389del
ENST00000470255.1:n.236del
NM_000030.2:c.847-389del NP_000021.1:n.847-389del
NM_000030.3:c.847-389del MANE Select NP_000021.1:n.847-389del
Search 100 bp 5'
Search 100 bp 3'