Canonical Allele Identifier: CA2982084

Gene: ANTXR2

Linked Data

• ClinVar Variation Id: 349889
• ClinVar RCV Id: RCV000321457
• dbSNP Id: rs765908500
• ExAC: 4:80993719 C / T
• gnomAD v2: 4-80993719-C-T
• gnomAD v3: 4-80072565-C-T
• gnomAD v4: 4-80072565-C-T
• MyVariant Identifiers: chr4:g.80993719C>T (hg19) ; chr4:g.80072565C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072565C>T , CM000666.2:g.80072565C>T	GRCh38
NC_000004.11:g.80993719C>T , CM000666.1:g.80993719C>T	GRCh37
NC_000004.10:g.81212743C>T	NCBI36
NG_015987.1:g.5759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.-5G>A MANE Select	ENSP00000385575.2:n.-5G>A
ENST00000679571.1:c.-80+144G>A	ENSP00000506307.1:n.-80+144G>A
ENST00000680913.1:c.-5G>A	ENSP00000505640.1:n.-5G>A
ENST00000681115.1:c.-5G>A	ENSP00000505618.1:n.-5G>A
ENST00000681710.1:c.-80+144G>A	ENSP00000505865.1:n.-80+144G>A
ENST00000346652.10:c.-5G>A	ENSP00000314883.6:n.-5G>A
ENST00000403729.6:c.-5G>A	ENSP00000385575.2:n.-5G>A
ENST00000404191.5:c.-80+830G>A	ENSP00000384028.1:n.-80+830G>A
ENST00000506286.1:n.630-911G>A
ENST00000514959.1:n.248+6788G>A
NM_001145794.1:c.-5G>A	NP_001139266.1:n.-5G>A
NM_001286780.1:c.-80+830G>A	NP_001273709.1:n.-80+830G>A
NM_001286781.1:c.-80+144G>A	NP_001273710.1:n.-80+144G>A
NM_058172.5:c.-5G>A	NP_477520.2:n.-5G>A
XM_011531587.1:c.-80+830G>A	XP_011529889.1:n.-80+830G>A
XM_011531587.3:c.-80+830G>A	XP_011529889.1:n.-80+830G>A
NM_058172.6:c.-5G>A MANE Select	NP_477520.2:n.-5G>A
NM_001286780.2:c.-80+830G>A	NP_001273709.1:n.-80+830G>A
NM_001286781.2:c.-80+144G>A	NP_001273710.1:n.-80+144G>A
NM_001145794.2:c.-5G>A	NP_001139266.1:n.-5G>A