Canonical Allele Identifier: CA440062371
Gene: ANTXR2 HGNC NCBI

Linked Data

gnomAD v4: 4-79984834-G-A
MyVariant Identifiers: chr4:g.80905988G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.79984834G>A , CM000666.2:g.79984834G>A GRCh38
NC_000004.11:g.80905988G>A , CM000666.1:g.80905988G>A GRCh37
NC_000004.10:g.81125012G>A NCBI36
NG_015987.1:g.93490C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403729.7:c.1071C>T MANE Select ENSP00000385575.2:p.Ala357=
ENST00000679571.1:c.840C>T ENSP00000506307.1:p.Ala280=
ENST00000680913.1:c.1071C>T ENSP00000505640.1:p.Ala357=
ENST00000681115.1:c.1071C>T ENSP00000505618.1:p.Ala357=
ENST00000681710.1:c.840C>T ENSP00000505865.1:p.Ala280=
ENST00000307333.7:c.1071C>T ENSP00000306185.6:p.Ala357=
ENST00000346652.10:c.762C>T ENSP00000314883.6:p.Ala254=
ENST00000403729.6:c.1071C>T ENSP00000385575.2:p.Ala357=
ENST00000404191.5:c.840C>T ENSP00000384028.1:p.Ala280=
ENST00000449651.5:c.*221C>T ENSP00000413700.1:n.*221C>T
NM_001145794.1:c.1071C>T NP_001139266.1:p.Ala357=
NM_001286780.1:c.840C>T NP_001273709.1:p.Ala280=
NM_001286781.1:c.840C>T NP_001273710.1:p.Ala280=
NM_058172.5:c.1071C>T NP_477520.2:p.Ala357=
XM_011531587.1:c.840C>T XP_011529889.1:p.Ala280=
XM_011531587.3:c.840C>T XP_011529889.1:p.Ala280=
NM_058172.6:c.1071C>T MANE Select NP_477520.2:p.Ala357=
NM_001286780.2:c.840C>T NP_001273709.1:p.Ala280=
NM_001286781.2:c.840C>T NP_001273710.1:p.Ala280=
NM_001145794.2:c.1071C>T NP_001139266.1:p.Ala357=