Canonical Allele Identifier: CA540538588
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1424708436
gnomAD v2: 2-241817583-T-C
gnomAD v4: 2-240878166-T-C
MyVariant Identifiers: chr2:g.241817583T>C (hg19) chr2:g.240878166T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240878166T>C , CM000664.2:g.240878166T>C GRCh38
NC_000002.11:g.241817583T>C , CM000664.1:g.241817583T>C GRCh37
NC_000002.10:g.241466256T>C NCBI36
NG_008005.1:g.14422T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.1071+16T>C MANE Select ENSP00000302620.3:n.1071+16T>C
ENST00000307503.3:c.1071+16T>C ENSP00000302620.3:n.1071+16T>C
ENST00000470255.1:n.849+16T>C
NM_000030.2:c.1071+16T>C NP_000021.1:n.1071+16T>C
NM_000030.3:c.1071+16T>C MANE Select NP_000021.1:n.1071+16T>C
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