Canonical Allele Identifier: CA100504977
Gene: ANTXR2 HGNC NCBI

Linked Data

dbSNP Id: rs377409784
gnomAD v3: 4-80072646-C-G
gnomAD v4: 4-80072646-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80072646C>G , CM000666.2:g.80072646C>G GRCh38
NC_000004.11:g.80993800C>G , CM000666.1:g.80993800C>G GRCh37
NC_000004.10:g.81212824C>G NCBI36
NG_015987.1:g.5678G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.-86G>C MANE Select ENSP00000385575.2:n.-86G>C
ENST00000679571.1:c.-80+63G>C ENSP00000506307.1:n.-80+63G>C
ENST00000680913.1:c.-86G>C ENSP00000505640.1:n.-86G>C
ENST00000681115.1:c.-86G>C ENSP00000505618.1:n.-86G>C
ENST00000681710.1:c.-80+63G>C ENSP00000505865.1:n.-80+63G>C
ENST00000346652.10:c.-86G>C ENSP00000314883.6:n.-86G>C
ENST00000403729.6:c.-86G>C ENSP00000385575.2:n.-86G>C
ENST00000404191.5:c.-80+749G>C ENSP00000384028.1:n.-80+749G>C
ENST00000506286.1:n.630-992G>C
ENST00000514959.1:n.248+6707G>C
NM_001145794.1:c.-86G>C NP_001139266.1:n.-86G>C
NM_001286780.1:c.-80+749G>C NP_001273709.1:n.-80+749G>C
NM_001286781.1:c.-80+63G>C NP_001273710.1:n.-80+63G>C
NM_058172.5:c.-86G>C NP_477520.2:n.-86G>C
XM_011531587.1:c.-80+749G>C XP_011529889.1:n.-80+749G>C
XM_011531587.3:c.-80+749G>C XP_011529889.1:n.-80+749G>C
NM_058172.6:c.-86G>C MANE Select NP_477520.2:n.-86G>C
NM_001286780.2:c.-80+749G>C NP_001273709.1:n.-80+749G>C
NM_001286781.2:c.-80+63G>C NP_001273710.1:n.-80+63G>C
NM_001145794.2:c.-86G>C NP_001139266.1:n.-86G>C