Canonical Allele Identifier: CA275677
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 204095
ClinVar RCV Id: RCV000186301 RCV000346525
dbSNP Id: rs376844297
ExAC: 2:241808773 C / T
gnomAD v2: 2-241808773-C-T
gnomAD v3: 2-240869356-C-T
gnomAD v4: 2-240869356-C-T
MyVariant Identifiers: chr2:g.241808773C>T (hg19) chr2:g.240869356C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869356C>T , CM000664.2:g.240869356C>T GRCh38
NC_000002.11:g.241808773C>T , CM000664.1:g.241808773C>T GRCh37
NC_000002.10:g.241457446C>T NCBI36
NG_008005.1:g.5612C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.352C>T MANE Select ENSP00000302620.3:p.Arg118Cys
ENST00000307503.3:c.352C>T ENSP00000302620.3:p.Arg118Cys
ENST00000472436.1:n.372C>T
NM_000030.2:c.352C>T NP_000021.1:p.Arg118Cys
XR_924060.1:n.405+877G>A
NM_000030.3:c.352C>T MANE Select NP_000021.1:p.Arg118Cys
Search 100 bp 5'
Search 100 bp 3'