Canonical Allele Identifier: CA540538034
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1303860574
gnomAD v2: 2-241816940-C-CA
gnomAD v4: 2-240877523-C-CA
MyVariant Identifiers: chr2:g.241816940_241816941insA (hg19) chr2:g.240877523_240877524insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877524dup , CM000664.2:g.240877524dup GRCh38
NC_000002.11:g.241816941dup , CM000664.1:g.241816941dup GRCh37
NC_000002.10:g.241465614dup NCBI36
NG_008005.1:g.13780dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-13dup MANE Select ENSP00000302620.3:n.847-13dup
ENST00000307503.3:c.847-13dup ENSP00000302620.3:n.847-13dup
ENST00000470255.1:n.612dup
NM_000030.2:c.847-13dup NP_000021.1:n.847-13dup
NM_000030.3:c.847-13dup MANE Select NP_000021.1:n.847-13dup
Search 100 bp 5'
Search 100 bp 3'