Canonical Allele Identifier: CA540752910
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1455281240
gnomAD v2: 2-241808248-C-G
gnomAD v4: 2-240868831-C-G
MyVariant Identifiers: chr2:g.241808248C>G (hg19) chr2:g.240868831C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868831C>G , CM000664.2:g.240868831C>G GRCh38
NC_000002.11:g.241808248C>G , CM000664.1:g.241808248C>G GRCh37
NC_000002.10:g.241456921C>G NCBI36
NG_008005.1:g.5087C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.-35C>G MANE Select ENSP00000302620.3:n.-35C>G
ENST00000307503.3:c.-35C>G ENSP00000302620.3:n.-35C>G
NM_000030.2:c.-35C>G NP_000021.1:n.-35C>G
XR_924060.1:n.405+1402G>C
NM_000030.3:c.-35C>G MANE Select NP_000021.1:n.-35C>G
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