Canonical Allele Identifier: CA357954

Gene: ANTXR1

Linked Data

• ClinVar Variation Id: 224852
• ClinVar RCV Id: RCV000210423
• dbSNP Id: rs869312896
• MyVariant Identifiers: chr2:g.69298918A>G (hg19) ; chr2:g.69071786A>G (hg38)
• PubMed: PMID:25045128

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.69071786A>G , CM000664.2:g.69071786A>G	GRCh38
NC_000002.11:g.69298918A>G , CM000664.1:g.69298918A>G	GRCh37
NC_000002.10:g.69152422A>G	NCBI36
NG_012649.1:g.63643A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303714.9:c.411A>G MANE Select	ENSP00000301945.4:p.Gln137=
ENST00000463335.2:c.411A>G	ENSP00000506719.1:p.Gln137=
ENST00000481119.2:n.735A>G
ENST00000482235.2:c.411A>G	ENSP00000430776.2:p.Gln137=
ENST00000679548.1:c.254A>G
ENST00000681816.1:c.411A>G	ENSP00000505171.1:p.Gln137=
ENST00000303714.8:c.411A>G	ENSP00000301945.4:p.Gln137=
ENST00000409349.7:c.411A>G	ENSP00000386494.3:p.Gln137=
ENST00000409829.7:c.411A>G	ENSP00000387058.3:p.Gln137=
ENST00000463335.1:n.554A>G
NM_018153.3:c.411A>G	NP_060623.2:p.Gln137=
NM_032208.2:c.411A>G	NP_115584.1:p.Gln137=
NM_053034.2:c.411A>G	NP_444262.1:p.Gln137=
XM_011533124.1:c.411A>G	XP_011531426.1:p.Gln137=
XR_939725.1:n.558A>G
XR_939726.1:n.558A>G
XM_017005075.2:c.411A>G	XP_016860564.1:p.Gln137=
XM_017005076.2:c.411A>G	XP_016860565.1:p.Gln137=
XM_017005077.2:c.411A>G	XP_016860566.1:p.Gln137=
NM_032208.3:c.411A>G MANE Select	NP_115584.1:p.Gln137=