Canonical Allele Identifier: CA351312903
Gene: AGXT HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.241808344C>G (hg19) chr2:g.240868927C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240868927C>G , CM000664.2:g.240868927C>G GRCh38
NC_000002.11:g.241808344C>G , CM000664.1:g.241808344C>G GRCh37
NC_000002.10:g.241457017C>G NCBI36
NG_008005.1:g.5183C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000307503.4:c.62C>G MANE Select ENSP00000302620.3:p.Pro21Arg
ENST00000307503.3:c.62C>G ENSP00000302620.3:p.Pro21Arg
ENST00000472436.1:n.82C>G
NM_000030.2:c.62C>G NP_000021.1:p.Pro21Arg
XR_924060.1:n.405+1306G>C
NM_000030.3:c.62C>G MANE Select NP_000021.1:p.Pro21Arg
Search 100 bp 5'
Search 100 bp 3'