Canonical Allele Identifier: CA2981735

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 906042
• ClinVar RCV Id: RCV001154939
• dbSNP Id: rs534683576
• ExAC: 4:80905989 G / C
• gnomAD v2: 4-80905989-G-C
• gnomAD v3: 4-79984835-G-C
• gnomAD v4: 4-79984835-G-C
• MyVariant Identifiers: chr4:g.80905989G>C (hg19) ; chr4:g.80905989_80905990delinsCC (hg19) ; chr4:g.79984835G>C (hg38) ; chr4:g.79984835_79984836delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.79984835G>C , CM000666.2:g.79984835G>C	GRCh38
NC_000004.11:g.80905989G>C , CM000666.1:g.80905989G>C	GRCh37
NC_000004.10:g.81125013G>C	NCBI36
NG_015987.1:g.93489C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403729.7:c.1070C>G MANE Select	ENSP00000385575.2:p.Ala357Gly
ENST00000679571.1:c.839C>G	ENSP00000506307.1:p.Ala280Gly
ENST00000680913.1:c.1070C>G	ENSP00000505640.1:p.Ala357Gly
ENST00000681115.1:c.1070C>G	ENSP00000505618.1:p.Ala357Gly
ENST00000681710.1:c.839C>G	ENSP00000505865.1:p.Ala280Gly
ENST00000307333.7:c.1070C>G	ENSP00000306185.6:p.Ala357Gly
ENST00000346652.10:c.761C>G	ENSP00000314883.6:p.Ala254Gly
ENST00000403729.6:c.1070C>G	ENSP00000385575.2:p.Ala357Gly
ENST00000404191.5:c.839C>G	ENSP00000384028.1:p.Ala280Gly
ENST00000449651.5:c.*220C>G	ENSP00000413700.1:n.*220C>G
NM_001145794.1:c.1070C>G	NP_001139266.1:p.Ala357Gly
NM_001286780.1:c.839C>G	NP_001273709.1:p.Ala280Gly
NM_001286781.1:c.839C>G	NP_001273710.1:p.Ala280Gly
NM_058172.5:c.1070C>G	NP_477520.2:p.Ala357Gly
XM_011531587.1:c.839C>G	XP_011529889.1:p.Ala280Gly
XM_011531587.3:c.839C>G	XP_011529889.1:p.Ala280Gly
NM_058172.6:c.1070C>G MANE Select	NP_477520.2:p.Ala357Gly
NM_001286780.2:c.839C>G	NP_001273709.1:p.Ala280Gly
NM_001286781.2:c.839C>G	NP_001273710.1:p.Ala280Gly
NM_001145794.2:c.1070C>G	NP_001139266.1:p.Ala357Gly