Canonical Allele Identifier: CA68180436
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs918572704
gnomAD v2: 2-241816434-G-C
gnomAD v3: 2-240877017-G-C
gnomAD v4: 2-240877017-G-C
MyVariant Identifiers: chr2:g.241816434G>C (hg19) chr2:g.240877017G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877017G>C , CM000664.2:g.240877017G>C GRCh38
NC_000002.11:g.241816434G>C , CM000664.1:g.241816434G>C GRCh37
NC_000002.10:g.241465107G>C NCBI36
NG_008005.1:g.13273G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-520G>C MANE Select ENSP00000302620.3:n.847-520G>C
ENST00000307503.3:c.847-520G>C ENSP00000302620.3:n.847-520G>C
ENST00000470255.1:n.105G>C
NM_000030.2:c.847-520G>C NP_000021.1:n.847-520G>C
NM_000030.3:c.847-520G>C MANE Select NP_000021.1:n.847-520G>C
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