Canonical Allele Identifier: CA2673511928
Gene: AGXT2 HGNC NCBI

Linked Data

dbSNP Id: rs2112150678
gnomAD v4: 5-34998689-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34998689G>T , CM000667.2:g.34998689G>T GRCh38
NC_000005.9:g.34998794G>T , CM000667.1:g.34998794G>T GRCh37
NC_000005.8:g.35034551G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000231420.11:c.*30C>A MANE Select ENSP00000231420.6:n.*30C>A
ENST00000231420.10:c.*30C>A ENSP00000231420.6:n.*30C>A
ENST00000510428.1:c.*30C>A ENSP00000422799.1:n.*30C>A
ENST00000512135.5:n.1245C>A
ENST00000618015.4:c.*30C>A ENSP00000479154.1:n.*30C>A
NM_001306173.1:c.*30C>A NP_001293102.1:n.*30C>A
NM_031900.3:c.*30C>A NP_114106.1:n.*30C>A
XM_005248337.2:c.*30C>A XP_005248394.1:n.*30C>A
XM_005248338.2:c.*30C>A XP_005248395.1:n.*30C>A
XM_011514077.1:c.1438-287C>A XP_011512379.1:n.1438-287C>A
XM_005248337.3:c.*30C>A XP_005248394.1:n.*30C>A
XM_005248338.3:c.*30C>A XP_005248395.1:n.*30C>A
XM_017009748.2:c.*30C>A XP_016865237.1:n.*30C>A
NM_031900.4:c.*30C>A MANE Select NP_114106.1:n.*30C>A
NM_001306173.2:c.*30C>A NP_001293102.1:n.*30C>A
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