Canonical Allele Identifier: CA1064610709
Gene: ANTXR2 HGNC NCBI

Linked Data

dbSNP Id: rs1734869006
gnomAD v3: 4-80072668-C-A
gnomAD v4: 4-80072668-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80072668C>A , CM000666.2:g.80072668C>A GRCh38
NC_000004.11:g.80993822C>A , CM000666.1:g.80993822C>A GRCh37
NC_000004.10:g.81212846C>A NCBI36
NG_015987.1:g.5656G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.-108G>T MANE Select ENSP00000385575.2:n.-108G>T
ENST00000679571.1:c.-80+41G>T ENSP00000506307.1:n.-80+41G>T
ENST00000680913.1:c.-108G>T ENSP00000505640.1:n.-108G>T
ENST00000681115.1:c.-108G>T ENSP00000505618.1:n.-108G>T
ENST00000681710.1:c.-80+41G>T ENSP00000505865.1:n.-80+41G>T
ENST00000346652.10:c.-108G>T ENSP00000314883.6:n.-108G>T
ENST00000403729.6:c.-108G>T ENSP00000385575.2:n.-108G>T
ENST00000404191.5:c.-80+727G>T ENSP00000384028.1:n.-80+727G>T
ENST00000506286.1:n.630-1014G>T
ENST00000514959.1:n.248+6685G>T
NM_001145794.1:c.-108G>T NP_001139266.1:n.-108G>T
NM_001286780.1:c.-80+727G>T NP_001273709.1:n.-80+727G>T
NM_001286781.1:c.-80+41G>T NP_001273710.1:n.-80+41G>T
NM_058172.5:c.-108G>T NP_477520.2:n.-108G>T
XM_011531587.1:c.-80+727G>T XP_011529889.1:n.-80+727G>T
XM_011531587.3:c.-80+727G>T XP_011529889.1:n.-80+727G>T
NM_058172.6:c.-108G>T MANE Select NP_477520.2:n.-108G>T
NM_001286780.2:c.-80+727G>T NP_001273709.1:n.-80+727G>T
NM_001286781.2:c.-80+41G>T NP_001273710.1:n.-80+41G>T
NM_001145794.2:c.-108G>T NP_001139266.1:n.-108G>T