Canonical Allele Identifier: CA276121
Community Standard Title: NM_058172.6(ANTXR2):c.1305del (p.Thr436HisfsTer24)
Gene: ANTXR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.79978051del , CM000666.2:g.79978051del GRCh38
NC_000004.11:g.80899205del , CM000666.1:g.80899205del GRCh37
NC_000004.10:g.81118229del NCBI36
NG_015987.1:g.100275del

Transcript Alleles

HGVS Amino-acid Change
NM_058172.6:c.1305del MANE Select NP_477520.2:p.Thr436HisfsTer24
ENST00000403729.7:c.1305del MANE Select ENSP00000385575.2:p.Thr436HisfsTer24
NM_001145794.1:c.1305del NP_001139266.1:p.Thr436HisfsTer24
NM_001145794.2:c.1305del NP_001139266.1:p.Thr436HisfsTer24
NM_001286780.1:c.1074del NP_001273709.1:p.Thr359HisfsTer24
NM_001286780.2:c.1074del NP_001273709.1:p.Thr359HisfsTer24
NM_001286781.1:c.1074del NP_001273710.1:p.Thr359HisfsTer24
NM_001286781.2:c.1074del NP_001273710.1:p.Thr359HisfsTer24
NM_058172.5:c.1305del NP_477520.2:p.Thr436HisfsTer24
ENST00000307333.7:c.1305del ENSP00000306185.6:p.Thr436HisfsTer24
ENST00000346652.10:c.996del ENSP00000314883.6:p.Thr333HisfsTer24
ENST00000403729.6:c.1305del ENSP00000385575.2:p.Thr436HisfsTer24
ENST00000404191.5:c.1074del ENSP00000384028.1:p.Thr359HisfsTer24
ENST00000449651.5:c.*455del ENSP00000413700.1:n.*455del
ENST00000679571.1:c.1074del ENSP00000506307.1:p.Thr359HisfsTer24
ENST00000680913.1:c.1305del ENSP00000505640.1:p.Thr436HisfsTer24
ENST00000681115.1:c.1305del ENSP00000505618.1:p.Thr436HisfsTer24
ENST00000681710.1:c.1074del ENSP00000505865.1:p.Thr359HisfsTer24
XM_011531587.1:c.1074del XP_011529889.1:p.Thr359HisfsTer24
XM_011531587.3:c.1074del XP_011529889.1:p.Thr359HisfsTer24
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