Canonical Allele Identifier: CA11727508

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 1279994
• ClinVar RCV Id: RCV001695146
• dbSNP Id: rs6818557
• gnomAD v2: 4-80993382-G-C
• gnomAD v3: 4-80072228-G-C
• gnomAD v4: 4-80072228-G-C
• MyVariant Identifiers: chr4:g.80993382G>C (hg19) ; chr4:g.80072228G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072228G>C , CM000666.2:g.80072228G>C	GRCh38
NC_000004.11:g.80993382G>C , CM000666.1:g.80993382G>C	GRCh37
NC_000004.10:g.81212406G>C	NCBI36
NG_015987.1:g.6096C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403729.7:c.152+181C>G MANE Select	ENSP00000385575.2:n.152+181C>G
ENST00000679571.1:c.-80+481C>G	ENSP00000506307.1:n.-80+481C>G
ENST00000680913.1:c.152+181C>G	ENSP00000505640.1:n.152+181C>G
ENST00000681115.1:c.152+181C>G	ENSP00000505618.1:n.152+181C>G
ENST00000681710.1:c.-80+481C>G	ENSP00000505865.1:n.-80+481C>G
ENST00000307333.7:c.152+181C>G	ENSP00000306185.6:n.152+181C>G
ENST00000346652.10:c.152+181C>G	ENSP00000314883.6:n.152+181C>G
ENST00000403729.6:c.152+181C>G	ENSP00000385575.2:n.152+181C>G
ENST00000404191.5:c.-79-574C>G	ENSP00000384028.1:n.-79-574C>G
ENST00000506286.1:n.630-574C>G
ENST00000514959.1:n.248+7125C>G
NM_001145794.1:c.152+181C>G	NP_001139266.1:n.152+181C>G
NM_001286780.1:c.-79-574C>G	NP_001273709.1:n.-79-574C>G
NM_001286781.1:c.-80+481C>G	NP_001273710.1:n.-80+481C>G
NM_058172.5:c.152+181C>G	NP_477520.2:n.152+181C>G
XM_011531587.1:c.-79-574C>G	XP_011529889.1:n.-79-574C>G
XM_011531587.3:c.-79-574C>G	XP_011529889.1:n.-79-574C>G
NM_058172.6:c.152+181C>G MANE Select	NP_477520.2:n.152+181C>G
NM_001286780.2:c.-79-574C>G	NP_001273709.1:n.-79-574C>G
NM_001286781.2:c.-80+481C>G	NP_001273710.1:n.-80+481C>G
NM_001145794.2:c.152+181C>G	NP_001139266.1:n.152+181C>G