Canonical Allele Identifier: CA2208988
Gene: AGXT HGNC NCBI

Linked Data

ClinVar Variation Id: 550334
ClinVar RCV Id: RCV000665056 RCV000885301 RCV001584529
dbSNP Id: rs74205173
ExAC: 2:241808427 A / C
gnomAD v2: 2-241808427-A-C
gnomAD v3: 2-240869010-A-C
gnomAD v4: 2-240869010-A-C
MyVariant Identifiers: chr2:g.241808427A>C (hg19) chr2:g.240869010A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240869010A>C , CM000664.2:g.240869010A>C GRCh38
NC_000002.11:g.241808427A>C , CM000664.1:g.241808427A>C GRCh37
NC_000002.10:g.241457100A>C NCBI36
NG_008005.1:g.5266A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.145A>C MANE Select ENSP00000302620.3:p.Met49Leu
ENST00000307503.3:c.145A>C ENSP00000302620.3:p.Met49Leu
ENST00000472436.1:n.165A>C
NM_000030.2:c.145A>C NP_000021.1:p.Met49Leu
XR_924060.1:n.405+1223T>G
NM_000030.3:c.145A>C MANE Select NP_000021.1:p.Met49Leu
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