Canonical Allele Identifier: CA2208975
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs765405040
ExAC: 2:241808362 G / T
gnomAD v2: 2-241808362-G-T
gnomAD v4: 2-240868945-G-T
MyVariant Identifiers: chr2:g.241808362G>T (hg19) chr2:g.240868945G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868945G>T , CM000664.2:g.240868945G>T GRCh38
NC_000002.11:g.241808362G>T , CM000664.1:g.241808362G>T GRCh37
NC_000002.10:g.241457035G>T NCBI36
NG_008005.1:g.5201G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.80G>T MANE Select ENSP00000302620.3:p.Gly27Val
ENST00000307503.3:c.80G>T ENSP00000302620.3:p.Gly27Val
ENST00000472436.1:n.100G>T
NM_000030.2:c.80G>T NP_000021.1:p.Gly27Val
XR_924060.1:n.405+1288C>A
NM_000030.3:c.80G>T MANE Select NP_000021.1:p.Gly27Val
Search 100 bp 5'
Search 100 bp 3'