Canonical Allele Identifier: CA558981966
Community Standard Title: NM_031900.4(AGXT2):c.814dup (p.Thr272AsnfsTer?)
Gene: AGXT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35026466dup , CM000667.2:g.35026466dup GRCh38
NC_000005.9:g.35026571dup , CM000667.1:g.35026571dup GRCh37
NC_000005.8:g.35062328dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_031900.4:c.814dup MANE Select NP_114106.1:p.Thr272AsnfsTer?
ENST00000231420.11:c.814dup MANE Select ENSP00000231420.6:p.Thr272AsnfsTer?
NM_001306173.1:c.814dup NP_001293102.1:p.Thr272AsnfsTer?
NM_001306173.2:c.814dup NP_001293102.1:p.Thr272AsnfsTer?
NM_031900.3:c.814dup NP_114106.1:p.Thr272AsnfsTer?
ENST00000231420.10:c.814dup ENSP00000231420.6:p.Thr272AsnfsTer?
ENST00000510428.1:c.814dup ENSP00000422799.1:p.Thr272AsnfsTer?
ENST00000618015.4:c.814dup ENSP00000479154.1:p.Thr272AsnfsTer?
XM_005248337.2:c.811dup XP_005248394.1:p.Thr271AsnfsTer?
XM_005248337.3:c.811dup XP_005248394.1:p.Thr271AsnfsTer?
XM_005248338.2:c.676-611dup XP_005248395.1:n.676-611dup
XM_005248338.3:c.676-611dup XP_005248395.1:n.676-611dup
XM_011514077.1:c.814dup XP_011512379.1:p.Thr272AsnfsTer?
XM_017009748.2:c.814dup XP_016865237.1:p.Thr272AsnfsTer?