Canonical Allele Identifier: CA2981694

Gene: ANTXR2

Linked Data

• dbSNP Id: rs137852901
• ExAC: 4:80905069 T / A
• gnomAD v2: 4-80905069-T-A
• gnomAD v3: 4-79983915-T-A
• gnomAD v4: 4-79983915-T-A
• MyVariant Identifiers: chr4:g.80905069T>A (hg19) ; chr4:g.79983915T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79983915T>A , CM000666.2:g.79983915T>A	GRCh38
NC_000004.11:g.80905069T>A , CM000666.1:g.80905069T>A	GRCh37
NC_000004.10:g.81124093T>A	NCBI36
NG_015987.1:g.94409A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403729.7:c.1142A>T MANE Select	ENSP00000385575.2:p.Tyr381Phe
ENST00000679571.1:c.911A>T	ENSP00000506307.1:p.Tyr304Phe
ENST00000680913.1:c.1142A>T	ENSP00000505640.1:p.Tyr381Phe
ENST00000681115.1:c.1142A>T	ENSP00000505618.1:p.Tyr381Phe
ENST00000681710.1:c.911A>T	ENSP00000505865.1:p.Tyr304Phe
ENST00000307333.7:c.1142A>T	ENSP00000306185.6:p.Tyr381Phe
ENST00000346652.10:c.833A>T	ENSP00000314883.6:p.Tyr278Phe
ENST00000403729.6:c.1142A>T	ENSP00000385575.2:p.Tyr381Phe
ENST00000404191.5:c.911A>T	ENSP00000384028.1:p.Tyr304Phe
ENST00000449651.5:c.*292A>T	ENSP00000413700.1:n.*292A>T
NM_001145794.1:c.1142A>T	NP_001139266.1:p.Tyr381Phe
NM_001286780.1:c.911A>T	NP_001273709.1:p.Tyr304Phe
NM_001286781.1:c.911A>T	NP_001273710.1:p.Tyr304Phe
NM_058172.5:c.1142A>T	NP_477520.2:p.Tyr381Phe
XM_011531587.1:c.911A>T	XP_011529889.1:p.Tyr304Phe
XM_011531587.3:c.911A>T	XP_011529889.1:p.Tyr304Phe
NM_058172.6:c.1142A>T MANE Select	NP_477520.2:p.Tyr381Phe
NM_001286780.2:c.911A>T	NP_001273709.1:p.Tyr304Phe
NM_001286781.2:c.911A>T	NP_001273710.1:p.Tyr304Phe
NM_001145794.2:c.1142A>T	NP_001139266.1:p.Tyr381Phe