Canonical Allele Identifier: CA100504923
Gene: ANTXR2 HGNC NCBI

Linked Data

dbSNP Id: rs953052222
gnomAD v3: 4-80072215-C-T
gnomAD v4: 4-80072215-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80072215C>T , CM000666.2:g.80072215C>T GRCh38
NC_000004.11:g.80993369C>T , CM000666.1:g.80993369C>T GRCh37
NC_000004.10:g.81212393C>T NCBI36
NG_015987.1:g.6109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.152+194G>A MANE Select ENSP00000385575.2:n.152+194G>A
ENST00000679571.1:c.-80+494G>A ENSP00000506307.1:n.-80+494G>A
ENST00000680913.1:c.152+194G>A ENSP00000505640.1:n.152+194G>A
ENST00000681115.1:c.152+194G>A ENSP00000505618.1:n.152+194G>A
ENST00000681710.1:c.-80+494G>A ENSP00000505865.1:n.-80+494G>A
ENST00000307333.7:c.152+194G>A ENSP00000306185.6:n.152+194G>A
ENST00000346652.10:c.152+194G>A ENSP00000314883.6:n.152+194G>A
ENST00000403729.6:c.152+194G>A ENSP00000385575.2:n.152+194G>A
ENST00000404191.5:c.-79-561G>A ENSP00000384028.1:n.-79-561G>A
ENST00000506286.1:n.630-561G>A
ENST00000514959.1:n.248+7138G>A
NM_001145794.1:c.152+194G>A NP_001139266.1:n.152+194G>A
NM_001286780.1:c.-79-561G>A NP_001273709.1:n.-79-561G>A
NM_001286781.1:c.-80+494G>A NP_001273710.1:n.-80+494G>A
NM_058172.5:c.152+194G>A NP_477520.2:n.152+194G>A
XM_011531587.1:c.-79-561G>A XP_011529889.1:n.-79-561G>A
XM_011531587.3:c.-79-561G>A XP_011529889.1:n.-79-561G>A
NM_058172.6:c.152+194G>A MANE Select NP_477520.2:n.152+194G>A
NM_001286780.2:c.-79-561G>A NP_001273709.1:n.-79-561G>A
NM_001286781.2:c.-80+494G>A NP_001273710.1:n.-80+494G>A
NM_001145794.2:c.152+194G>A NP_001139266.1:n.152+194G>A