Canonical Allele Identifier: CA2981883
Community Standard Title: NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg)
Gene: ANTXR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80036017A>G , CM000666.2:g.80036017A>G GRCh38
NC_000004.11:g.80957171A>G , CM000666.1:g.80957171A>G GRCh37
NC_000004.10:g.81176195A>G NCBI36
NG_015987.1:g.42307T>C

Transcript Alleles

HGVS Amino-acid Change
NM_058172.6:c.652T>C MANE Select NP_477520.2:p.Cys218Arg
ENST00000403729.7:c.652T>C MANE Select ENSP00000385575.2:p.Cys218Arg
NM_001145794.1:c.652T>C NP_001139266.1:p.Cys218Arg
NM_001145794.2:c.652T>C NP_001139266.1:p.Cys218Arg
NM_001286780.1:c.421T>C NP_001273709.1:p.Cys141Arg
NM_001286780.2:c.421T>C NP_001273709.1:p.Cys141Arg
NM_001286781.1:c.421T>C NP_001273710.1:p.Cys141Arg
NM_001286781.2:c.421T>C NP_001273710.1:p.Cys141Arg
NM_058172.5:c.652T>C NP_477520.2:p.Cys218Arg
ENST00000307333.7:c.652T>C ENSP00000306185.6:p.Cys218Arg
ENST00000346652.10:c.636+18255T>C ENSP00000314883.6:n.636+18255T>C
ENST00000403729.6:c.652T>C ENSP00000385575.2:p.Cys218Arg
ENST00000404191.5:c.421T>C ENSP00000384028.1:p.Cys141Arg
ENST00000449651.5:c.421T>C ENSP00000413700.1:p.Cys141Arg
ENST00000679571.1:c.421T>C ENSP00000506307.1:p.Cys141Arg
ENST00000680913.1:c.652T>C ENSP00000505640.1:p.Cys218Arg
ENST00000681115.1:c.652T>C ENSP00000505618.1:p.Cys218Arg
ENST00000681710.1:c.421T>C ENSP00000505865.1:p.Cys141Arg
XM_011531587.1:c.421T>C XP_011529889.1:p.Cys141Arg
XM_011531587.3:c.421T>C XP_011529889.1:p.Cys141Arg