Canonical Allele Identifier: CA10602936

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 280129
• ClinVar RCV Id: RCV000369962 ; RCV001261563
• dbSNP Id: rs886041401
• gnomAD v4: 4-80072427-A-G
• MyVariant Identifiers: chr4:g.80993581A>G (hg19) ; chr4:g.80072427A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072427A>G , CM000666.2:g.80072427A>G	GRCh38
NC_000004.11:g.80993581A>G , CM000666.1:g.80993581A>G	GRCh37
NC_000004.10:g.81212605A>G	NCBI36
NG_015987.1:g.5897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.134T>C MANE Select	ENSP00000385575.2:p.Leu45Pro
ENST00000679571.1:c.-80+282T>C	ENSP00000506307.1:n.-80+282T>C
ENST00000680913.1:c.134T>C	ENSP00000505640.1:p.Leu45Pro
ENST00000681115.1:c.134T>C	ENSP00000505618.1:p.Leu45Pro
ENST00000681710.1:c.-80+282T>C	ENSP00000505865.1:n.-80+282T>C
ENST00000307333.7:c.134T>C	ENSP00000306185.6:p.Leu45Pro
ENST00000346652.10:c.134T>C	ENSP00000314883.6:p.Leu45Pro
ENST00000403729.6:c.134T>C	ENSP00000385575.2:p.Leu45Pro
ENST00000404191.5:c.-79-773T>C	ENSP00000384028.1:n.-79-773T>C
ENST00000506286.1:n.630-773T>C
ENST00000514959.1:n.248+6926T>C
NM_001145794.1:c.134T>C	NP_001139266.1:p.Leu45Pro
NM_001286780.1:c.-79-773T>C	NP_001273709.1:n.-79-773T>C
NM_001286781.1:c.-80+282T>C	NP_001273710.1:n.-80+282T>C
NM_058172.5:c.134T>C	NP_477520.2:p.Leu45Pro
XM_011531587.1:c.-79-773T>C	XP_011529889.1:n.-79-773T>C
XM_011531587.3:c.-79-773T>C	XP_011529889.1:n.-79-773T>C
NM_058172.6:c.134T>C MANE Select	NP_477520.2:p.Leu45Pro
NM_001286780.2:c.-79-773T>C	NP_001273709.1:n.-79-773T>C
NM_001286781.2:c.-80+282T>C	NP_001273710.1:n.-80+282T>C
NM_001145794.2:c.134T>C	NP_001139266.1:p.Leu45Pro