Canonical Allele Identifier: CA2208995
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2731457
ClinVar RCV Id: RCV003580028
dbSNP Id: rs201390940
ExAC: 2:241808466 C / T
gnomAD v2: 2-241808466-C-T
gnomAD v3: 2-240869049-C-T
gnomAD v4: 2-240869049-C-T
MyVariant Identifiers: chr2:g.241808466C>T (hg19) chr2:g.240869049C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869049C>T , CM000664.2:g.240869049C>T GRCh38
NC_000002.11:g.241808466C>T , CM000664.1:g.241808466C>T GRCh37
NC_000002.10:g.241457139C>T NCBI36
NG_008005.1:g.5305C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.165+19C>T MANE Select ENSP00000302620.3:n.165+19C>T
ENST00000307503.3:c.165+19C>T ENSP00000302620.3:n.165+19C>T
ENST00000472436.1:n.185+19C>T
NM_000030.2:c.165+19C>T NP_000021.1:n.165+19C>T
XR_924060.1:n.405+1184G>A
NM_000030.3:c.165+19C>T MANE Select NP_000021.1:n.165+19C>T
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