Canonical Allele Identifier: CA3228921
Gene: AGXT2 HGNC NCBI

Linked Data

dbSNP Id: rs16899974
gnomAD v2: 5-34998877-C-A
gnomAD v3: 5-34998772-C-A
gnomAD v4: 5-34998772-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998772C>A , CM000667.2:g.34998772C>A GRCh38
NC_000005.9:g.34998877C>A , CM000667.1:g.34998877C>A GRCh37
NC_000005.8:g.35034634C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231420.11:c.1492G>T MANE Select ENSP00000231420.6:p.Val498Leu
ENST00000231420.10:c.1492G>T ENSP00000231420.6:p.Val498Leu
ENST00000510428.1:c.1267G>T ENSP00000422799.1:p.Val423Leu
ENST00000512135.5:n.1162G>T
ENST00000618015.4:c.1267G>T ENSP00000479154.1:p.Val423Leu
NM_001306173.1:c.1267G>T NP_001293102.1:p.Val423Leu
NM_031900.3:c.1492G>T NP_114106.1:p.Val498Leu
XM_005248337.2:c.1489G>T XP_005248394.1:p.Val497Leu
XM_005248338.2:c.1297G>T XP_005248395.1:p.Val433Leu
XM_011514077.1:c.1438-370G>T XP_011512379.1:n.1438-370G>T
XM_005248337.3:c.1489G>T XP_005248394.1:p.Val497Leu
XM_005248338.3:c.1297G>T XP_005248395.1:p.Val433Leu
XM_017009748.2:c.1267G>T XP_016865237.1:p.Val423Leu
NM_031900.4:c.1492G>T MANE Select NP_114106.1:p.Val498Leu
NM_001306173.2:c.1267G>T NP_001293102.1:p.Val423Leu