Canonical Allele Identifier: CA2582342654

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 2585639
• ClinVar RCV Id: RCV003338921

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79983918del , CM000666.2:g.79983918del	GRCh38
NC_000004.11:g.80905072del , CM000666.1:g.80905072del	GRCh37
NC_000004.10:g.81124096del	NCBI36
NG_015987.1:g.94406del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.1139del MANE Select	ENSP00000385575.2:p.Tyr380PhefsTer29
ENST00000679571.1:c.908del	ENSP00000506307.1:p.Tyr303PhefsTer29
ENST00000680913.1:c.1139del	ENSP00000505640.1:p.Tyr380PhefsTer29
ENST00000681115.1:c.1139del	ENSP00000505618.1:p.Tyr380PhefsTer29
ENST00000681710.1:c.908del	ENSP00000505865.1:p.Tyr303PhefsTer29
ENST00000307333.7:c.1139del	ENSP00000306185.6:p.Tyr380PhefsTer29
ENST00000346652.10:c.830del	ENSP00000314883.6:p.Tyr277PhefsTer29
ENST00000403729.6:c.1139del	ENSP00000385575.2:p.Tyr380PhefsTer29
ENST00000404191.5:c.908del	ENSP00000384028.1:p.Tyr303PhefsTer29
ENST00000449651.5:c.*289del	ENSP00000413700.1:n.*289del
NM_001145794.1:c.1139del	NP_001139266.1:p.Tyr380PhefsTer29
NM_001286780.1:c.908del	NP_001273709.1:p.Tyr303PhefsTer29
NM_001286781.1:c.908del	NP_001273710.1:p.Tyr303PhefsTer29
NM_058172.5:c.1139del	NP_477520.2:p.Tyr380PhefsTer29
XM_011531587.1:c.908del	XP_011529889.1:p.Tyr303PhefsTer29
XM_011531587.3:c.908del	XP_011529889.1:p.Tyr303PhefsTer29
NM_058172.6:c.1139del MANE Select	NP_477520.2:p.Tyr380PhefsTer29
NM_001286780.2:c.908del	NP_001273709.1:p.Tyr303PhefsTer29
NM_001286781.2:c.908del	NP_001273710.1:p.Tyr303PhefsTer29
NM_001145794.2:c.1139del	NP_001139266.1:p.Tyr380PhefsTer29