Canonical Allele Identifier: CA100500964
Gene: ANTXR2 HGNC NCBI
MyVariant.info:
Revel Score:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80036011C>T , CM000666.2:g.80036011C>T GRCh38
NC_000004.11:g.80957165C>T , CM000666.1:g.80957165C>T GRCh37
NC_000004.10:g.81176189C>T NCBI36
NG_015987.1:g.42313G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.658G>A MANE Select ENSP00000385575.2:p.Glu220Lys
ENST00000679571.1:c.427G>A ENSP00000506307.1:p.Glu143Lys
ENST00000680913.1:c.658G>A ENSP00000505640.1:p.Glu220Lys
ENST00000681115.1:c.658G>A ENSP00000505618.1:p.Glu220Lys
ENST00000681710.1:c.427G>A ENSP00000505865.1:p.Glu143Lys
ENST00000307333.7:c.658G>A ENSP00000306185.6:p.Glu220Lys
ENST00000346652.10:c.636+18261G>A ENSP00000314883.6:n.636+18261G>A
ENST00000403729.6:c.658G>A ENSP00000385575.2:p.Glu220Lys
ENST00000404191.5:c.427G>A ENSP00000384028.1:p.Glu143Lys
ENST00000449651.5:c.427G>A ENSP00000413700.1:p.Glu143Lys
NM_001145794.1:c.658G>A NP_001139266.1:p.Glu220Lys
NM_001286780.1:c.427G>A NP_001273709.1:p.Glu143Lys
NM_001286781.1:c.427G>A NP_001273710.1:p.Glu143Lys
NM_058172.5:c.658G>A NP_477520.2:p.Glu220Lys
XM_011531587.1:c.427G>A XP_011529889.1:p.Glu143Lys
XM_011531587.3:c.427G>A XP_011529889.1:p.Glu143Lys
NM_058172.6:c.658G>A MANE Select NP_477520.2:p.Glu220Lys
NM_001286780.2:c.427G>A NP_001273709.1:p.Glu143Lys
NM_001286781.2:c.427G>A NP_001273710.1:p.Glu143Lys
NM_001145794.2:c.658G>A NP_001139266.1:p.Glu220Lys