Canonical Allele Identifier: CA443882143
Gene: AGXT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.34998881A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998776A>G , CM000667.2:g.34998776A>G GRCh38
NC_000005.9:g.34998881A>G , CM000667.1:g.34998881A>G GRCh37
NC_000005.8:g.35034638A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231420.11:c.1488T>C MANE Select ENSP00000231420.6:p.Phe496=
ENST00000231420.10:c.1488T>C ENSP00000231420.6:p.Phe496=
ENST00000510428.1:c.1263T>C ENSP00000422799.1:p.Phe421=
ENST00000512135.5:n.1158T>C
ENST00000618015.4:c.1263T>C ENSP00000479154.1:p.Phe421=
NM_001306173.1:c.1263T>C NP_001293102.1:p.Phe421=
NM_031900.3:c.1488T>C NP_114106.1:p.Phe496=
XM_005248337.2:c.1485T>C XP_005248394.1:p.Phe495=
XM_005248338.2:c.1293T>C XP_005248395.1:p.Phe431=
XM_011514077.1:c.1438-374T>C XP_011512379.1:n.1438-374T>C
XM_005248337.3:c.1485T>C XP_005248394.1:p.Phe495=
XM_005248338.3:c.1293T>C XP_005248395.1:p.Phe431=
XM_017009748.2:c.1263T>C XP_016865237.1:p.Phe421=
NM_031900.4:c.1488T>C MANE Select NP_114106.1:p.Phe496=
NM_001306173.2:c.1263T>C NP_001293102.1:p.Phe421=