Canonical Allele Identifier: CA2981800
Community Standard Title: NM_058172.6(ANTXR2):c.945+7A>G
Gene: ANTXR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80018891T>C , CM000666.2:g.80018891T>C GRCh38
NC_000004.11:g.80940045T>C , CM000666.1:g.80940045T>C GRCh37
NC_000004.10:g.81159069T>C NCBI36
NG_015987.1:g.59433A>G

Transcript Alleles

HGVS Amino-acid Change
NM_058172.6:c.945+7A>G MANE Select NP_477520.2:n.945+7A>G
ENST00000403729.7:c.945+7A>G MANE Select ENSP00000385575.2:n.945+7A>G
NM_001145794.1:c.945+7A>G NP_001139266.1:n.945+7A>G
NM_001145794.2:c.945+7A>G NP_001139266.1:n.945+7A>G
NM_001286780.1:c.714+7A>G NP_001273709.1:n.714+7A>G
NM_001286780.2:c.714+7A>G NP_001273709.1:n.714+7A>G
NM_001286781.1:c.714+7A>G NP_001273710.1:n.714+7A>G
NM_001286781.2:c.714+7A>G NP_001273710.1:n.714+7A>G
NM_058172.5:c.945+7A>G NP_477520.2:n.945+7A>G
ENST00000307333.7:c.945+7A>G ENSP00000306185.6:n.945+7A>G
ENST00000346652.10:c.637-10275A>G ENSP00000314883.6:n.637-10275A>G
ENST00000403729.6:c.945+7A>G ENSP00000385575.2:n.945+7A>G
ENST00000404191.5:c.714+7A>G ENSP00000384028.1:n.714+7A>G
ENST00000449651.5:c.*95+7A>G ENSP00000413700.1:n.*95+7A>G
ENST00000679571.1:c.714+7A>G ENSP00000506307.1:n.714+7A>G
ENST00000680913.1:c.945+7A>G ENSP00000505640.1:n.945+7A>G
ENST00000681115.1:c.945+7A>G ENSP00000505618.1:n.945+7A>G
ENST00000681710.1:c.714+7A>G ENSP00000505865.1:n.714+7A>G
XM_011531587.1:c.714+7A>G XP_011529889.1:n.714+7A>G
XM_011531587.3:c.714+7A>G XP_011529889.1:n.714+7A>G