Canonical Allele Identifier: CA68178996
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1040078914
gnomAD v2: 2-241812570-T-C
gnomAD v3: 2-240873153-T-C
gnomAD v4: 2-240873153-T-C
MyVariant Identifiers: chr2:g.241812570T>C (hg19) chr2:g.240873153T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873153T>C , CM000664.2:g.240873153T>C GRCh38
NC_000002.11:g.241812570T>C , CM000664.1:g.241812570T>C GRCh37
NC_000002.10:g.241461243T>C NCBI36
NG_008005.1:g.9409T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+104T>C MANE Select ENSP00000302620.3:n.595+104T>C
ENST00000307503.3:c.595+104T>C ENSP00000302620.3:n.595+104T>C
ENST00000472436.1:n.719T>C
ENST00000476698.1:n.332+104T>C
NM_000030.2:c.595+104T>C NP_000021.1:n.595+104T>C
NM_000030.3:c.595+104T>C MANE Select NP_000021.1:n.595+104T>C
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