Canonical Allele Identifier: CA2673511922
Gene: AGXT2 HGNC NCBI

Linked Data

gnomAD v4: 5-34998678-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998678C>A , CM000667.2:g.34998678C>A GRCh38
NC_000005.9:g.34998783C>A , CM000667.1:g.34998783C>A GRCh37
NC_000005.8:g.35034540C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231420.11:c.*41G>T MANE Select ENSP00000231420.6:n.*41G>T
ENST00000231420.10:c.*41G>T ENSP00000231420.6:n.*41G>T
ENST00000510428.1:c.*41G>T ENSP00000422799.1:n.*41G>T
ENST00000512135.5:n.1256G>T
ENST00000618015.4:c.*41G>T ENSP00000479154.1:n.*41G>T
NM_001306173.1:c.*41G>T NP_001293102.1:n.*41G>T
NM_031900.3:c.*41G>T NP_114106.1:n.*41G>T
XM_005248337.2:c.*41G>T XP_005248394.1:n.*41G>T
XM_005248338.2:c.*41G>T XP_005248395.1:n.*41G>T
XM_011514077.1:c.1438-276G>T XP_011512379.1:n.1438-276G>T
XM_005248337.3:c.*41G>T XP_005248394.1:n.*41G>T
XM_005248338.3:c.*41G>T XP_005248395.1:n.*41G>T
XM_017009748.2:c.*41G>T XP_016865237.1:n.*41G>T
NM_031900.4:c.*41G>T MANE Select NP_114106.1:n.*41G>T
NM_001306173.2:c.*41G>T NP_001293102.1:n.*41G>T