Canonical Allele Identifier: CA2982029
Community Standard Title: NM_058172.6(ANTXR2):c.195C>T (p.Phe65=)
Gene: ANTXR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80071612G>A , CM000666.2:g.80071612G>A GRCh38
NC_000004.11:g.80992766G>A , CM000666.1:g.80992766G>A GRCh37
NC_000004.10:g.81211790G>A NCBI36
NG_015987.1:g.6712C>T

Transcript Alleles

HGVS Amino-acid Change
NM_058172.6:c.195C>T MANE Select NP_477520.2:p.Phe65=
ENST00000403729.7:c.195C>T MANE Select ENSP00000385575.2:p.Phe65=
NM_001145794.1:c.195C>T NP_001139266.1:p.Phe65=
NM_001145794.2:c.195C>T NP_001139266.1:p.Phe65=
NM_001286780.1:c.-37C>T NP_001273709.1:n.-37C>T
NM_001286780.2:c.-37C>T NP_001273709.1:n.-37C>T
NM_001286781.1:c.-37C>T NP_001273710.1:n.-37C>T
NM_001286781.2:c.-37C>T NP_001273710.1:n.-37C>T
NM_058172.5:c.195C>T NP_477520.2:p.Phe65=
ENST00000307333.7:c.195C>T ENSP00000306185.6:p.Phe65=
ENST00000346652.10:c.195C>T ENSP00000314883.6:p.Phe65=
ENST00000403729.6:c.195C>T ENSP00000385575.2:p.Phe65=
ENST00000404191.5:c.-37C>T ENSP00000384028.1:n.-37C>T
ENST00000449651.5:c.-37C>T ENSP00000413700.1:n.-37C>T
ENST00000506286.1:n.672C>T
ENST00000514959.1:n.248+7741C>T
ENST00000679571.1:c.-37C>T ENSP00000506307.1:n.-37C>T
ENST00000680913.1:c.195C>T ENSP00000505640.1:p.Phe65=
ENST00000681115.1:c.195C>T ENSP00000505618.1:p.Phe65=
ENST00000681710.1:c.-37C>T ENSP00000505865.1:n.-37C>T
XM_011531587.1:c.-37C>T XP_011529889.1:n.-37C>T
XM_011531587.3:c.-37C>T XP_011529889.1:n.-37C>T