Canonical Allele Identifier: CA3228921
Gene: AGXT2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.34998772C>A
GRCh37 chr5:g.34998877C>A
Revel Score:
ENST00000231420 (MANE Select) 0.041
gnomAD v2:
5:34998877 C / A
gnomAD v3:
5:34998772 C / A
gnomAD v4:
chr5-34998772-C-A
Joint Max Group AF 0.43147558 (EAS)
Genomes Max Group AF 0.40663681 (EAS)
Exomes Max Group AF 0.43312647 (EAS)
dbSNP:
16899974
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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
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