Canonical Allele Identifier: CA252351
Gene: ANTXR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2603
ClinVar RCV Id: RCV000002721
dbSNP Id: rs137852905
gnomAD v4: 4-80054342-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80054342A>G , CM000666.2:g.80054342A>G GRCh38
NC_000004.11:g.80975496A>G , CM000666.1:g.80975496A>G GRCh37
NC_000004.10:g.81194520A>G NCBI36
NG_015987.1:g.23982T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.566T>C MANE Select ENSP00000385575.2:p.Ile189Thr
ENST00000679571.1:c.335T>C ENSP00000506307.1:p.Ile112Thr
ENST00000680913.1:c.566T>C ENSP00000505640.1:p.Ile189Thr
ENST00000681115.1:c.566T>C ENSP00000505618.1:p.Ile189Thr
ENST00000681710.1:c.335T>C ENSP00000505865.1:p.Ile112Thr
ENST00000307333.7:c.566T>C ENSP00000306185.6:p.Ile189Thr
ENST00000346652.10:c.566T>C ENSP00000314883.6:p.Ile189Thr
ENST00000403729.6:c.566T>C ENSP00000385575.2:p.Ile189Thr
ENST00000404191.5:c.335T>C ENSP00000384028.1:p.Ile112Thr
ENST00000449651.5:c.335T>C ENSP00000413700.1:p.Ile112Thr
ENST00000514959.1:n.518T>C
NM_001145794.1:c.566T>C NP_001139266.1:p.Ile189Thr
NM_001286780.1:c.335T>C NP_001273709.1:p.Ile112Thr
NM_001286781.1:c.335T>C NP_001273710.1:p.Ile112Thr
NM_058172.5:c.566T>C NP_477520.2:p.Ile189Thr
XM_011531587.1:c.335T>C XP_011529889.1:p.Ile112Thr
XM_011531587.3:c.335T>C XP_011529889.1:p.Ile112Thr
NM_058172.6:c.566T>C MANE Select NP_477520.2:p.Ile189Thr
NM_001286780.2:c.335T>C NP_001273709.1:p.Ile112Thr
NM_001286781.2:c.335T>C NP_001273710.1:p.Ile112Thr
NM_001145794.2:c.566T>C NP_001139266.1:p.Ile189Thr