Canonical Allele Identifier: CA2209216
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs754180585
ExAC: 2:241814556 C / G
gnomAD v2: 2-241814556-C-G
gnomAD v4: 2-240875139-C-G
MyVariant Identifiers: chr2:g.241814556C>G (hg19) chr2:g.240875139C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875139C>G , CM000664.2:g.240875139C>G GRCh38
NC_000002.11:g.241814556C>G , CM000664.1:g.241814556C>G GRCh37
NC_000002.10:g.241463229C>G NCBI36
NG_008005.1:g.11395C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.711C>G MANE Select ENSP00000302620.3:p.Pro237=
ENST00000307503.3:c.711C>G ENSP00000302620.3:p.Pro237=
ENST00000476698.1:n.363C>G
NM_000030.2:c.711C>G NP_000021.1:p.Pro237=
NM_000030.3:c.711C>G MANE Select NP_000021.1:p.Pro237=
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