Canonical Allele Identifier: CA16604726

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 383750
• ClinVar RCV Id: RCV000433418
• dbSNP Id: rs1057521726
• MyVariant Identifiers: chr4:g.80905067C>A (hg19) ; chr4:g.79983913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79983913C>A , CM000666.2:g.79983913C>A	GRCh38
NC_000004.11:g.80905067C>A , CM000666.1:g.80905067C>A	GRCh37
NC_000004.10:g.81124091C>A	NCBI36
NG_015987.1:g.94411G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403729.7:c.1144G>T MANE Select	ENSP00000385575.2:p.Gly382Cys
ENST00000679571.1:c.913G>T	ENSP00000506307.1:p.Gly305Cys
ENST00000680913.1:c.1144G>T	ENSP00000505640.1:p.Gly382Cys
ENST00000681115.1:c.1144G>T	ENSP00000505618.1:p.Gly382Cys
ENST00000681710.1:c.913G>T	ENSP00000505865.1:p.Gly305Cys
ENST00000307333.7:c.1144G>T	ENSP00000306185.6:p.Gly382Cys
ENST00000346652.10:c.835G>T	ENSP00000314883.6:p.Gly279Cys
ENST00000403729.6:c.1144G>T	ENSP00000385575.2:p.Gly382Cys
ENST00000404191.5:c.913G>T	ENSP00000384028.1:p.Gly305Cys
ENST00000449651.5:c.*294G>T	ENSP00000413700.1:n.*294G>T
NM_001145794.1:c.1144G>T	NP_001139266.1:p.Gly382Cys
NM_001286780.1:c.913G>T	NP_001273709.1:p.Gly305Cys
NM_001286781.1:c.913G>T	NP_001273710.1:p.Gly305Cys
NM_058172.5:c.1144G>T	NP_477520.2:p.Gly382Cys
XM_011531587.1:c.913G>T	XP_011529889.1:p.Gly305Cys
XM_011531587.3:c.913G>T	XP_011529889.1:p.Gly305Cys
NM_058172.6:c.1144G>T MANE Select	NP_477520.2:p.Gly382Cys
NM_001286780.2:c.913G>T	NP_001273709.1:p.Gly305Cys
NM_001286781.2:c.913G>T	NP_001273710.1:p.Gly305Cys
NM_001145794.2:c.1144G>T	NP_001139266.1:p.Gly382Cys