Canonical Allele Identifier: CA2981725

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 419342
• ClinVar RCV Id: RCV000483857 ; RCV001261562
• dbSNP Id: rs312262693
• ExAC: 4:80905984 CA / C
• gnomAD v2: 4-80905984-CA-C
• gnomAD v3: 4-79984830-CA-C
• gnomAD v4: 4-79984830-CA-C
• MyVariant Identifiers: chr4:g.80905985del (hg19) ; chr4:g.79984831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79984831del , CM000666.2:g.79984831del	GRCh38
NC_000004.11:g.80905985del , CM000666.1:g.80905985del	GRCh37
NC_000004.10:g.81125009del	NCBI36
NG_015987.1:g.93493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.1074del MANE Select	ENSP00000385575.2:p.Ala359HisfsTer?
ENST00000679571.1:c.843del	ENSP00000506307.1:p.Ala282HisfsTer?
ENST00000680913.1:c.1074del	ENSP00000505640.1:p.Ala359HisfsTer?
ENST00000681115.1:c.1074del	ENSP00000505618.1:p.Ala359HisfsTer?
ENST00000681710.1:c.843del	ENSP00000505865.1:p.Ala282HisfsTer?
ENST00000307333.7:c.1074del	ENSP00000306185.6:p.Ala359HisfsTer?
ENST00000346652.10:c.765del	ENSP00000314883.6:p.Ala256HisfsTer?
ENST00000403729.6:c.1074del	ENSP00000385575.2:p.Ala359HisfsTer?
ENST00000404191.5:c.843del	ENSP00000384028.1:p.Ala282HisfsTer?
ENST00000449651.5:c.*224del	ENSP00000413700.1:n.*224del
NM_001145794.1:c.1074del	NP_001139266.1:p.Ala359HisfsTer?
NM_001286780.1:c.843del	NP_001273709.1:p.Ala282HisfsTer?
NM_001286781.1:c.843del	NP_001273710.1:p.Ala282HisfsTer?
NM_058172.5:c.1074del	NP_477520.2:p.Ala359HisfsTer?
XM_011531587.1:c.843del	XP_011529889.1:p.Ala282HisfsTer?
XM_011531587.3:c.843del	XP_011529889.1:p.Ala282HisfsTer?
NM_058172.6:c.1074del MANE Select	NP_477520.2:p.Ala359HisfsTer?
NM_001286780.2:c.843del	NP_001273709.1:p.Ala282HisfsTer?
NM_001286781.2:c.843del	NP_001273710.1:p.Ala282HisfsTer?
NM_001145794.2:c.1074del	NP_001139266.1:p.Ala359HisfsTer?