Canonical Allele Identifier: CA2209399
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs746979172
ExAC: 2:241817598 A / G
gnomAD v2: 2-241817598-A-G
gnomAD v4: 2-240878181-A-G
MyVariant Identifiers: chr2:g.241817598A>G (hg19) chr2:g.240878181A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878181A>G , CM000664.2:g.240878181A>G GRCh38
NC_000002.11:g.241817598A>G , CM000664.1:g.241817598A>G GRCh37
NC_000002.10:g.241466271A>G NCBI36
NG_008005.1:g.14437A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1071+31A>G MANE Select ENSP00000302620.3:n.1071+31A>G
ENST00000307503.3:c.1071+31A>G ENSP00000302620.3:n.1071+31A>G
ENST00000470255.1:n.849+31A>G
NM_000030.2:c.1071+31A>G NP_000021.1:n.1071+31A>G
NM_000030.3:c.1071+31A>G MANE Select NP_000021.1:n.1071+31A>G
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