Canonical Allele Identifier: CA10588987

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 266112
• ClinVar RCV Id: RCV000256477
• dbSNP Id: rs886039907
• COSMIC: COSM4522137 ; COSM4522138
• MyVariant Identifiers: chr4:g.80905063C>T (hg19) ; chr4:g.79983909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79983909C>T , CM000666.2:g.79983909C>T	GRCh38
NC_000004.11:g.80905063C>T , CM000666.1:g.80905063C>T	GRCh37
NC_000004.10:g.81124087C>T	NCBI36
NG_015987.1:g.94415G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.1148G>A MANE Select	ENSP00000385575.2:p.Gly383Asp
ENST00000679571.1:c.917G>A	ENSP00000506307.1:p.Gly306Asp
ENST00000680913.1:c.1148G>A	ENSP00000505640.1:p.Gly383Asp
ENST00000681115.1:c.1148G>A	ENSP00000505618.1:p.Gly383Asp
ENST00000681710.1:c.917G>A	ENSP00000505865.1:p.Gly306Asp
ENST00000307333.7:c.1148G>A	ENSP00000306185.6:p.Gly383Asp
ENST00000346652.10:c.839G>A	ENSP00000314883.6:p.Gly280Asp
ENST00000403729.6:c.1148G>A	ENSP00000385575.2:p.Gly383Asp
ENST00000404191.5:c.917G>A	ENSP00000384028.1:p.Gly306Asp
ENST00000449651.5:c.*298G>A	ENSP00000413700.1:n.*298G>A
NM_001145794.1:c.1148G>A	NP_001139266.1:p.Gly383Asp
NM_001286780.1:c.917G>A	NP_001273709.1:p.Gly306Asp
NM_001286781.1:c.917G>A	NP_001273710.1:p.Gly306Asp
NM_058172.5:c.1148G>A	NP_477520.2:p.Gly383Asp
XM_011531587.1:c.917G>A	XP_011529889.1:p.Gly306Asp
XM_011531587.3:c.917G>A	XP_011529889.1:p.Gly306Asp
NM_058172.6:c.1148G>A MANE Select	NP_477520.2:p.Gly383Asp
NM_001286780.2:c.917G>A	NP_001273709.1:p.Gly306Asp
NM_001286781.2:c.917G>A	NP_001273710.1:p.Gly306Asp
NM_001145794.2:c.1148G>A	NP_001139266.1:p.Gly383Asp