Canonical Allele Identifier: CA100504986

Gene: ANTXR2

Linked Data

• dbSNP Id: rs956332750
• gnomAD v2: 4-80993856-G-GACCC
• gnomAD v3: 4-80072702-G-GACCC
• gnomAD v4: 4-80072702-G-GACCC
• MyVariant Identifiers: chr4:g.80993856_80993857insACCC (hg19) ; chr4:g.80072702_80072703insACCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072706_80072709dup , CM000666.2:g.80072706_80072709dup	GRCh38
NC_000004.11:g.80993860_80993863dup , CM000666.1:g.80993860_80993863dup	GRCh37
NC_000004.10:g.81212884_81212887dup	NCBI36
NG_015987.1:g.5618_5621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.-146_-143dup MANE Select	ENSP00000385575.2:n.-146_-143dup
ENST00000679571.1:c.-80+3_-80+6dup
ENST00000680913.1:c.-146_-143dup	ENSP00000505640.1:n.-146_-143dup
ENST00000681115.1:c.-146_-143dup	ENSP00000505618.1:n.-146_-143dup
ENST00000681710.1:c.-80+3_-80+6dup
ENST00000403729.6:c.-146_-143dup	ENSP00000385575.2:n.-146_-143dup
ENST00000404191.5:c.-80+689_-80+692dup	ENSP00000384028.1:n.-80+689_-80+692dup
ENST00000506286.1:n.630-1052_630-1049dup
ENST00000514959.1:n.248+6647_248+6650dup
NM_001145794.1:c.-146_-143dup	NP_001139266.1:n.-146_-143dup
NM_001286780.1:c.-80+689_-80+692dup	NP_001273709.1:n.-80+689_-80+692dup
NM_001286781.1:c.-80+3_-80+6dup
NM_058172.5:c.-146_-143dup	NP_477520.2:n.-146_-143dup
XM_011531587.1:c.-80+689_-80+692dup	XP_011529889.1:n.-80+689_-80+692dup
XM_011531587.3:c.-80+689_-80+692dup	XP_011529889.1:n.-80+689_-80+692dup
NM_058172.6:c.-146_-143dup MANE Select	NP_477520.2:n.-146_-143dup
NM_001286780.2:c.-80+689_-80+692dup	NP_001273709.1:n.-80+689_-80+692dup
NM_001286781.2:c.-80+3_-80+6dup
NM_001145794.2:c.-146_-143dup	NP_001139266.1:n.-146_-143dup