Canonical Allele Identifier: CA2982062

Gene: ANTXR2

Linked Data

• dbSNP Id: rs748892926
• ExAC: 4:80993627 G / GC
• gnomAD v2: 4-80993627-G-GC
• gnomAD v4: 4-80072473-G-GC
• MyVariant Identifiers: chr4:g.80993628_80993629insC (hg19) ; chr4:g.80993627_80993628insC (hg19) ; chr4:g.80072474_80072475insC (hg38) ; chr4:g.80072473_80072474insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072479dup , CM000666.2:g.80072479dup	GRCh38
NC_000004.11:g.80993633dup , CM000666.1:g.80993633dup	GRCh37
NC_000004.10:g.81212657dup	NCBI36
NG_015987.1:g.5850dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.87dup MANE Select	ENSP00000385575.2:p.Leu30AlafsTer15
ENST00000679571.1:c.-80+235dup	ENSP00000506307.1:n.-80+235dup
ENST00000680913.1:c.87dup	ENSP00000505640.1:p.Leu30AlafsTer15
ENST00000681115.1:c.87dup	ENSP00000505618.1:p.Leu30AlafsTer15
ENST00000681710.1:c.-80+235dup	ENSP00000505865.1:n.-80+235dup
ENST00000307333.7:c.87dup	ENSP00000306185.6:p.Leu30AlafsTer15
ENST00000346652.10:c.87dup	ENSP00000314883.6:p.Leu30AlafsTer15
ENST00000403729.6:c.87dup	ENSP00000385575.2:p.Leu30AlafsTer15
ENST00000404191.5:c.-79-820dup	ENSP00000384028.1:n.-79-820dup
ENST00000506286.1:n.630-820dup
ENST00000514959.1:n.248+6879dup
NM_001145794.1:c.87dup	NP_001139266.1:p.Leu30AlafsTer15
NM_001286780.1:c.-79-820dup	NP_001273709.1:n.-79-820dup
NM_001286781.1:c.-80+235dup	NP_001273710.1:n.-80+235dup
NM_058172.5:c.87dup	NP_477520.2:p.Leu30AlafsTer15
XM_011531587.1:c.-79-820dup	XP_011529889.1:n.-79-820dup
XM_011531587.3:c.-79-820dup	XP_011529889.1:n.-79-820dup
NM_058172.6:c.87dup MANE Select	NP_477520.2:p.Leu30AlafsTer15
NM_001286780.2:c.-79-820dup	NP_001273709.1:n.-79-820dup
NM_001286781.2:c.-80+235dup	NP_001273710.1:n.-80+235dup
NM_001145794.2:c.87dup	NP_001139266.1:p.Leu30AlafsTer15