Canonical Allele Identifier: CA2673511975
Gene: AGXT2 HGNC NCBI

Linked Data

gnomAD v4: 5-34998870-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998870C>T , CM000667.2:g.34998870C>T GRCh38
NC_000005.9:g.34998975C>T , CM000667.1:g.34998975C>T GRCh37
NC_000005.8:g.35034732C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.1438-44G>A MANE Select ENSP00000231420.6:n.1438-44G>A
ENST00000231420.10:c.1438-44G>A ENSP00000231420.6:n.1438-44G>A
ENST00000510428.1:c.1213-44G>A ENSP00000422799.1:n.1213-44G>A
ENST00000512135.5:n.1108-44G>A
ENST00000618015.4:c.1213-44G>A ENSP00000479154.1:n.1213-44G>A
NM_001306173.1:c.1213-44G>A NP_001293102.1:n.1213-44G>A
NM_031900.3:c.1438-44G>A NP_114106.1:n.1438-44G>A
XM_005248337.2:c.1435-44G>A XP_005248394.1:n.1435-44G>A
XM_005248338.2:c.1243-44G>A XP_005248395.1:n.1243-44G>A
XM_011514077.1:c.1438-468G>A XP_011512379.1:n.1438-468G>A
XM_005248337.3:c.1435-44G>A XP_005248394.1:n.1435-44G>A
XM_005248338.3:c.1243-44G>A XP_005248395.1:n.1243-44G>A
XM_017009748.2:c.1213-44G>A XP_016865237.1:n.1213-44G>A
NM_031900.4:c.1438-44G>A MANE Select NP_114106.1:n.1438-44G>A
NM_001306173.2:c.1213-44G>A NP_001293102.1:n.1213-44G>A