Canonical Allele Identifier: CA11294061
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 1273566
ClinVar RCV Id: RCV001682029
dbSNP Id: rs4073597
gnomAD v2: 2-241817927-C-T
gnomAD v3: 2-240878510-C-T
gnomAD v4: 2-240878510-C-T
MyVariant Identifiers: chr2:g.241817927C>T (hg19) chr2:g.240878510C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878510C>T , CM000664.2:g.240878510C>T GRCh38
NC_000002.11:g.241817927C>T , CM000664.1:g.241817927C>T GRCh37
NC_000002.10:g.241466600C>T NCBI36
NG_008005.1:g.14766C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.1072-204C>T MANE Select ENSP00000302620.3:n.1072-204C>T
ENST00000307503.3:c.1072-204C>T ENSP00000302620.3:n.1072-204C>T
ENST00000470255.1:n.850-204C>T
NM_000030.2:c.1072-204C>T NP_000021.1:n.1072-204C>T
NM_000030.3:c.1072-204C>T MANE Select NP_000021.1:n.1072-204C>T
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