Canonical Allele Identifier: CA68179057
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs979301639
gnomAD v4: 2-240873384-T-C
MyVariant Identifiers: chr2:g.241812801T>C (hg19) chr2:g.240873384T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240873384T>C , CM000664.2:g.240873384T>C GRCh38
NC_000002.11:g.241812801T>C , CM000664.1:g.241812801T>C GRCh37
NC_000002.10:g.241461474T>C NCBI36
NG_008005.1:g.9640T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.595+335T>C MANE Select ENSP00000302620.3:n.595+335T>C
ENST00000307503.3:c.595+335T>C ENSP00000302620.3:n.595+335T>C
ENST00000472436.1:n.950T>C
ENST00000476698.1:n.332+335T>C
NM_000030.2:c.595+335T>C NP_000021.1:n.595+335T>C
NM_000030.3:c.595+335T>C MANE Select NP_000021.1:n.595+335T>C
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