Canonical Allele Identifier: CA359404067
Gene: AGXT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998804A>C , CM000667.2:g.34998804A>C GRCh38
NC_000005.9:g.34998909A>C , CM000667.1:g.34998909A>C GRCh37
NC_000005.8:g.35034666A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1460T>G MANE Select ENSP00000231420.6:p.Met487Arg
ENST00000231420.10:c.1460T>G ENSP00000231420.6:p.Met487Arg
ENST00000510428.1:c.1235T>G ENSP00000422799.1:p.Met412Arg
ENST00000512135.5:n.1130T>G
ENST00000618015.4:c.1235T>G ENSP00000479154.1:p.Met412Arg
NM_001306173.1:c.1235T>G NP_001293102.1:p.Met412Arg
NM_031900.3:c.1460T>G NP_114106.1:p.Met487Arg
XM_005248337.2:c.1457T>G XP_005248394.1:p.Met486Arg
XM_005248338.2:c.1265T>G XP_005248395.1:p.Met422Arg
XM_011514077.1:c.1438-402T>G XP_011512379.1:n.1438-402T>G
XM_005248337.3:c.1457T>G XP_005248394.1:p.Met486Arg
XM_005248338.3:c.1265T>G XP_005248395.1:p.Met422Arg
XM_017009748.2:c.1235T>G XP_016865237.1:p.Met412Arg
NM_031900.4:c.1460T>G MANE Select NP_114106.1:p.Met487Arg
NM_001306173.2:c.1235T>G NP_001293102.1:p.Met412Arg