Canonical Allele Identifier: CA351316875
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 2681180
ClinVar RCV Id: RCV003468705
dbSNP Id: rs1242267009
gnomAD v2: 2-241813426-G-T
gnomAD v4: 2-240874009-G-T
MyVariant Identifiers: chr2:g.241813426G>T (hg19) chr2:g.240874009G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240874009G>T , CM000664.2:g.240874009G>T GRCh38
NC_000002.11:g.241813426G>T , CM000664.1:g.241813426G>T GRCh37
NC_000002.10:g.241462099G>T NCBI36
NG_008005.1:g.10265G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.627G>T MANE Select ENSP00000302620.3:p.Lys209Asn
ENST00000307503.3:c.627G>T ENSP00000302620.3:p.Lys209Asn
ENST00000476698.1:n.332+960G>T
NM_000030.2:c.627G>T NP_000021.1:p.Lys209Asn
NM_000030.3:c.627G>T MANE Select NP_000021.1:p.Lys209Asn
Search 100 bp 5'
Search 100 bp 3'