Canonical Allele Identifier: CA2209296
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs547374823
ExAC: 2:241816548 A / G
gnomAD v2: 2-241816548-A-G
gnomAD v3: 2-240877131-A-G
gnomAD v4: 2-240877131-A-G
MyVariant Identifiers: chr2:g.241816548A>G (hg19) chr2:g.240877131A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877131A>G , CM000664.2:g.240877131A>G GRCh38
NC_000002.11:g.241816548A>G , CM000664.1:g.241816548A>G GRCh37
NC_000002.10:g.241465221A>G NCBI36
NG_008005.1:g.13387A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-406A>G MANE Select ENSP00000302620.3:n.847-406A>G
ENST00000307503.3:c.847-406A>G ENSP00000302620.3:n.847-406A>G
ENST00000470255.1:n.219A>G
NM_000030.2:c.847-406A>G NP_000021.1:n.847-406A>G
NM_000030.3:c.847-406A>G MANE Select NP_000021.1:n.847-406A>G
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