Canonical Allele Identifier: CA359403975
Gene: AGXT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998792T>C , CM000667.2:g.34998792T>C GRCh38
NC_000005.9:g.34998897T>C , CM000667.1:g.34998897T>C GRCh37
NC_000005.8:g.35034654T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1472A>G MANE Select ENSP00000231420.6:p.Lys491Arg
ENST00000231420.10:c.1472A>G ENSP00000231420.6:p.Lys491Arg
ENST00000510428.1:c.1247A>G ENSP00000422799.1:p.Lys416Arg
ENST00000512135.5:n.1142A>G
ENST00000618015.4:c.1247A>G ENSP00000479154.1:p.Lys416Arg
NM_001306173.1:c.1247A>G NP_001293102.1:p.Lys416Arg
NM_031900.3:c.1472A>G NP_114106.1:p.Lys491Arg
XM_005248337.2:c.1469A>G XP_005248394.1:p.Lys490Arg
XM_005248338.2:c.1277A>G XP_005248395.1:p.Lys426Arg
XM_011514077.1:c.1438-390A>G XP_011512379.1:n.1438-390A>G
XM_005248337.3:c.1469A>G XP_005248394.1:p.Lys490Arg
XM_005248338.3:c.1277A>G XP_005248395.1:p.Lys426Arg
XM_017009748.2:c.1247A>G XP_016865237.1:p.Lys416Arg
NM_031900.4:c.1472A>G MANE Select NP_114106.1:p.Lys491Arg
NM_001306173.2:c.1247A>G NP_001293102.1:p.Lys416Arg