Canonical Allele Identifier: CA2671171685
Gene: ANTXR2 HGNC NCBI

Linked Data

dbSNP Id: rs2110129630
gnomAD v4: 4-80072758-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80072758T>C , CM000666.2:g.80072758T>C GRCh38
NC_000004.11:g.80993912T>C , CM000666.1:g.80993912T>C GRCh37
NC_000004.10:g.81212936T>C NCBI36
NG_015987.1:g.5566A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403729.7:c.-198A>G MANE Select ENSP00000385575.2:n.-198A>G
ENST00000679571.1:c.-129A>G ENSP00000506307.1:n.-129A>G
ENST00000681115.1:c.-198A>G ENSP00000505618.1:n.-198A>G
ENST00000681710.1:c.-129A>G ENSP00000505865.1:n.-129A>G
ENST00000403729.6:c.-198A>G ENSP00000385575.2:n.-198A>G
ENST00000404191.5:c.-80+637A>G ENSP00000384028.1:n.-80+637A>G
ENST00000506286.1:n.630-1104A>G
ENST00000514959.1:n.248+6595A>G
NM_001145794.1:c.-198A>G NP_001139266.1:n.-198A>G
NM_001286780.1:c.-80+637A>G NP_001273709.1:n.-80+637A>G
NM_001286781.1:c.-129A>G NP_001273710.1:n.-129A>G
NM_058172.5:c.-198A>G NP_477520.2:n.-198A>G
XM_011531587.1:c.-80+637A>G XP_011529889.1:n.-80+637A>G
XM_011531587.3:c.-80+637A>G XP_011529889.1:n.-80+637A>G
NM_058172.6:c.-198A>G MANE Select NP_477520.2:n.-198A>G
NM_001286780.2:c.-80+637A>G NP_001273709.1:n.-80+637A>G
NM_001286781.2:c.-129A>G NP_001273710.1:n.-129A>G
NM_001145794.2:c.-198A>G NP_001139266.1:n.-198A>G