Canonical Allele Identifier: CA2982072

Gene: ANTXR2

Linked Data

• dbSNP Id: rs775715780
• ExAC: 4:80993649 C / CAACAGCCACAGCCCGGGG
• gnomAD v2: 4-80993649-C-CAACAGCCACAGCCCGGGG
• gnomAD v3: 4-80072495-C-CAACAGCCACAGCCCGGGG
• gnomAD v4: 4-80072495-C-CAACAGCCACAGCCCGGGG
• MyVariant Identifiers: chr4:g.80993649_80993650insAACAGCCACAGCCCGGGG (hg19) ; chr4:g.80072495_80072496insAACAGCCACAGCCCGGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072504_80072521dup , CM000666.2:g.80072504_80072521dup	GRCh38
NC_000004.11:g.80993658_80993675dup , CM000666.1:g.80993658_80993675dup	GRCh37
NC_000004.10:g.81212682_81212699dup	NCBI36
NG_015987.1:g.5811_5828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.48_65dup MANE Select	ENSP00000385575.2:p.Leu21_Leu22insPheProGlyLeuTrpLeu
ENST00000679571.1:c.-80+196_-80+213dup	ENSP00000506307.1:n.-80+196_-80+213dup
ENST00000680913.1:c.48_65dup	ENSP00000505640.1:p.Leu21_Leu22insPheProGlyLeuTrpLeu
ENST00000681115.1:c.48_65dup	ENSP00000505618.1:p.Leu21_Leu22insPheProGlyLeuTrpLeu
ENST00000681710.1:c.-80+196_-80+213dup	ENSP00000505865.1:n.-80+196_-80+213dup
ENST00000307333.7:c.48_65dup	ENSP00000306185.6:p.Leu21_Leu22insPheProGlyLeuTrpLeu
ENST00000346652.10:c.48_65dup	ENSP00000314883.6:p.Leu21_Leu22insPheProGlyLeuTrpLeu
ENST00000403729.6:c.48_65dup	ENSP00000385575.2:p.Leu21_Leu22insPheProGlyLeuTrpLeu
ENST00000404191.5:c.-79-859_-79-842dup	ENSP00000384028.1:n.-79-859_-79-842dup
ENST00000506286.1:n.630-859_630-842dup
ENST00000514959.1:n.248+6840_248+6857dup
NM_001145794.1:c.48_65dup	NP_001139266.1:p.Leu21_Leu22insPheProGlyLeuTrpLeu
NM_001286780.1:c.-79-859_-79-842dup	NP_001273709.1:n.-79-859_-79-842dup
NM_001286781.1:c.-80+196_-80+213dup	NP_001273710.1:n.-80+196_-80+213dup
NM_058172.5:c.48_65dup	NP_477520.2:p.Leu21_Leu22insPheProGlyLeuTrpLeu
XM_011531587.1:c.-79-859_-79-842dup	XP_011529889.1:n.-79-859_-79-842dup
XM_011531587.3:c.-79-859_-79-842dup	XP_011529889.1:n.-79-859_-79-842dup
NM_058172.6:c.48_65dup MANE Select	NP_477520.2:p.Leu21_Leu22insPheProGlyLeuTrpLeu
NM_001286780.2:c.-79-859_-79-842dup	NP_001273709.1:n.-79-859_-79-842dup
NM_001286781.2:c.-80+196_-80+213dup	NP_001273710.1:n.-80+196_-80+213dup
NM_001145794.2:c.48_65dup	NP_001139266.1:p.Leu21_Leu22insPheProGlyLeuTrpLeu