Canonical Allele Identifier: CA2981621

Gene: ANTXR2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79977689C>T , CM000666.2:g.79977689C>T	GRCh38
NC_000004.11:g.80898843C>T , CM000666.1:g.80898843C>T	GRCh37
NC_000004.10:g.81117867C>T	NCBI36
NG_015987.1:g.100635G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_058172.6:c.1360G>A MANE Select	NP_477520.2:p.Ala454Thr
ENST00000403729.7:c.1360G>A MANE Select	ENSP00000385575.2:p.Ala454Thr
NM_001145794.1:c.1360G>A	NP_001139266.1:p.Ala454Thr
NM_001145794.2:c.1360G>A	NP_001139266.1:p.Ala454Thr
NM_001286780.1:c.1129G>A	NP_001273709.1:p.Ala377Thr
NM_001286780.2:c.1129G>A	NP_001273709.1:p.Ala377Thr
NM_001286781.1:c.1129G>A	NP_001273710.1:p.Ala377Thr
NM_001286781.2:c.1129G>A	NP_001273710.1:p.Ala377Thr
NM_058172.5:c.1360G>A	NP_477520.2:p.Ala454Thr
ENST00000307333.7:c.1360G>A	ENSP00000306185.6:p.Ala454Thr
ENST00000346652.10:c.1051G>A	ENSP00000314883.6:p.Ala351Thr
ENST00000403729.6:c.1360G>A	ENSP00000385575.2:p.Ala454Thr
ENST00000404191.5:c.1129G>A	ENSP00000384028.1:p.Ala377Thr
ENST00000449651.5:c.*510G>A	ENSP00000413700.1:n.*510G>A
ENST00000679571.1:c.1129G>A	ENSP00000506307.1:p.Ala377Thr
ENST00000680913.1:c.1360G>A	ENSP00000505640.1:p.Ala454Thr
ENST00000681115.1:c.1360G>A	ENSP00000505618.1:p.Ala454Thr
ENST00000681710.1:c.1129G>A	ENSP00000505865.1:p.Ala377Thr
XM_011531587.1:c.1129G>A	XP_011529889.1:p.Ala377Thr
XM_011531587.3:c.1129G>A	XP_011529889.1:p.Ala377Thr