Canonical Allele Identifier: CA443882123
Gene: AGXT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.34998854T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998749T>C , CM000667.2:g.34998749T>C GRCh38
NC_000005.9:g.34998854T>C , CM000667.1:g.34998854T>C GRCh37
NC_000005.8:g.35034611T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1515A>G MANE Select ENSP00000231420.6:p.Leu505=
ENST00000231420.10:c.1515A>G ENSP00000231420.6:p.Leu505=
ENST00000510428.1:c.1290A>G ENSP00000422799.1:p.Leu430=
ENST00000512135.5:n.1185A>G
ENST00000618015.4:c.1290A>G ENSP00000479154.1:p.Leu430=
NM_001306173.1:c.1290A>G NP_001293102.1:p.Leu430=
NM_031900.3:c.1515A>G NP_114106.1:p.Leu505=
XM_005248337.2:c.1512A>G XP_005248394.1:p.Leu504=
XM_005248338.2:c.1320A>G XP_005248395.1:p.Leu440=
XM_011514077.1:c.1438-347A>G XP_011512379.1:n.1438-347A>G
XM_005248337.3:c.1512A>G XP_005248394.1:p.Leu504=
XM_005248338.3:c.1320A>G XP_005248395.1:p.Leu440=
XM_017009748.2:c.1290A>G XP_016865237.1:p.Leu430=
NM_031900.4:c.1515A>G MANE Select NP_114106.1:p.Leu505=
NM_001306173.2:c.1290A>G NP_001293102.1:p.Leu430=