Canonical Allele Identifier: CA2673511891
Gene: AGXT2 HGNC NCBI

Linked Data

gnomAD v4: 5-34998636-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998636G>C , CM000667.2:g.34998636G>C GRCh38
NC_000005.9:g.34998741G>C , CM000667.1:g.34998741G>C GRCh37
NC_000005.8:g.35034498G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000231420.11:c.*83C>G MANE Select ENSP00000231420.6:n.*83C>G
ENST00000231420.10:c.*83C>G ENSP00000231420.6:n.*83C>G
ENST00000510428.1:c.*45+38C>G ENSP00000422799.1:n.*45+38C>G
ENST00000512135.5:n.1298C>G
ENST00000618015.4:c.*83C>G ENSP00000479154.1:n.*83C>G
NM_001306173.1:c.*45+38C>G NP_001293102.1:n.*45+38C>G
NM_031900.3:c.*83C>G NP_114106.1:n.*83C>G
XM_005248337.2:c.*83C>G XP_005248394.1:n.*83C>G
XM_005248338.2:c.*83C>G XP_005248395.1:n.*83C>G
XM_011514077.1:c.1438-234C>G XP_011512379.1:n.1438-234C>G
XM_005248337.3:c.*83C>G XP_005248394.1:n.*83C>G
XM_005248338.3:c.*83C>G XP_005248395.1:n.*83C>G
XM_017009748.2:c.*83C>G XP_016865237.1:n.*83C>G
NM_031900.4:c.*83C>G MANE Select NP_114106.1:n.*83C>G
NM_001306173.2:c.*45+38C>G NP_001293102.1:n.*45+38C>G