Canonical Allele Identifier: CA10618482

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 349890
• ClinVar RCV Id: RCV000376264 ; RCV001643063
• dbSNP Id: rs13140055
• gnomAD v2: 4-80993796-G-T
• gnomAD v3: 4-80072642-G-T
• gnomAD v4: 4-80072642-G-T
• MyVariant Identifiers: chr4:g.80993796G>T (hg19) ; chr4:g.80072642G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072642G>T , CM000666.2:g.80072642G>T	GRCh38
NC_000004.11:g.80993796G>T , CM000666.1:g.80993796G>T	GRCh37
NC_000004.10:g.81212820G>T	NCBI36
NG_015987.1:g.5682C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403729.7:c.-82C>A MANE Select	ENSP00000385575.2:n.-82C>A
ENST00000679571.1:c.-80+67C>A	ENSP00000506307.1:n.-80+67C>A
ENST00000680913.1:c.-82C>A	ENSP00000505640.1:n.-82C>A
ENST00000681115.1:c.-82C>A	ENSP00000505618.1:n.-82C>A
ENST00000681710.1:c.-80+67C>A	ENSP00000505865.1:n.-80+67C>A
ENST00000346652.10:c.-82C>A	ENSP00000314883.6:n.-82C>A
ENST00000403729.6:c.-82C>A	ENSP00000385575.2:n.-82C>A
ENST00000404191.5:c.-80+753C>A	ENSP00000384028.1:n.-80+753C>A
ENST00000506286.1:n.630-988C>A
ENST00000514959.1:n.248+6711C>A
NM_001145794.1:c.-82C>A	NP_001139266.1:n.-82C>A
NM_001286780.1:c.-80+753C>A	NP_001273709.1:n.-80+753C>A
NM_001286781.1:c.-80+67C>A	NP_001273710.1:n.-80+67C>A
NM_058172.5:c.-82C>A	NP_477520.2:n.-82C>A
XM_011531587.1:c.-80+753C>A	XP_011529889.1:n.-80+753C>A
XM_011531587.3:c.-80+753C>A	XP_011529889.1:n.-80+753C>A
NM_058172.6:c.-82C>A MANE Select	NP_477520.2:n.-82C>A
NM_001286780.2:c.-80+753C>A	NP_001273709.1:n.-80+753C>A
NM_001286781.2:c.-80+67C>A	NP_001273710.1:n.-80+67C>A
NM_001145794.2:c.-82C>A	NP_001139266.1:n.-82C>A