Canonical Allele Identifier: CA252343

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 2599
• ClinVar RCV Id: RCV000002717
• dbSNP Id: rs137852901
• MyVariant Identifiers: chr4:g.80905069T>C (hg19) ; chr4:g.79983915T>C (hg38)
• PubMed: PMID:14508707 ; PMID:22383261

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79983915T>C , CM000666.2:g.79983915T>C	GRCh38
NC_000004.11:g.80905069T>C , CM000666.1:g.80905069T>C	GRCh37
NC_000004.10:g.81124093T>C	NCBI36
NG_015987.1:g.94409A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.1142A>G MANE Select	ENSP00000385575.2:p.Tyr381Cys
ENST00000679571.1:c.911A>G	ENSP00000506307.1:p.Tyr304Cys
ENST00000680913.1:c.1142A>G	ENSP00000505640.1:p.Tyr381Cys
ENST00000681115.1:c.1142A>G	ENSP00000505618.1:p.Tyr381Cys
ENST00000681710.1:c.911A>G	ENSP00000505865.1:p.Tyr304Cys
ENST00000307333.7:c.1142A>G	ENSP00000306185.6:p.Tyr381Cys
ENST00000346652.10:c.833A>G	ENSP00000314883.6:p.Tyr278Cys
ENST00000403729.6:c.1142A>G	ENSP00000385575.2:p.Tyr381Cys
ENST00000404191.5:c.911A>G	ENSP00000384028.1:p.Tyr304Cys
ENST00000449651.5:c.*292A>G	ENSP00000413700.1:n.*292A>G
NM_001145794.1:c.1142A>G	NP_001139266.1:p.Tyr381Cys
NM_001286780.1:c.911A>G	NP_001273709.1:p.Tyr304Cys
NM_001286781.1:c.911A>G	NP_001273710.1:p.Tyr304Cys
NM_058172.5:c.1142A>G	NP_477520.2:p.Tyr381Cys
XM_011531587.1:c.911A>G	XP_011529889.1:p.Tyr304Cys
XM_011531587.3:c.911A>G	XP_011529889.1:p.Tyr304Cys
NM_058172.6:c.1142A>G MANE Select	NP_477520.2:p.Tyr381Cys
NM_001286780.2:c.911A>G	NP_001273709.1:p.Tyr304Cys
NM_001286781.2:c.911A>G	NP_001273710.1:p.Tyr304Cys
NM_001145794.2:c.1142A>G	NP_001139266.1:p.Tyr381Cys