Canonical Allele Identifier: CA68179812
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs914609351
gnomAD v2: 2-241814795-T-C
gnomAD v3: 2-240875378-T-C
gnomAD v4: 2-240875378-T-C
MyVariant Identifiers: chr2:g.241814795T>C (hg19) chr2:g.240875378T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240875378T>C , CM000664.2:g.240875378T>C GRCh38
NC_000002.11:g.241814795T>C , CM000664.1:g.241814795T>C GRCh37
NC_000002.10:g.241463468T>C NCBI36
NG_008005.1:g.11634T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.776+174T>C MANE Select ENSP00000302620.3:n.776+174T>C
ENST00000307503.3:c.776+174T>C ENSP00000302620.3:n.776+174T>C
ENST00000476698.1:n.428+174T>C
NM_000030.2:c.776+174T>C NP_000021.1:n.776+174T>C
NM_000030.3:c.776+174T>C MANE Select NP_000021.1:n.776+174T>C
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