Canonical Allele Identifier: CA553083393

Gene: ANTXR2

Linked Data

• dbSNP Id: rs1208484183
• gnomAD v2: 4-80993759-A-G
• gnomAD v4: 4-80072605-A-G
• MyVariant Identifiers: chr4:g.80993759A>G (hg19) ; chr4:g.80072605A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.80072605A>G , CM000666.2:g.80072605A>G	GRCh38
NC_000004.11:g.80993759A>G , CM000666.1:g.80993759A>G	GRCh37
NC_000004.10:g.81212783A>G	NCBI36
NG_015987.1:g.5719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403729.7:c.-45T>C MANE Select	ENSP00000385575.2:n.-45T>C
ENST00000679571.1:c.-80+104T>C	ENSP00000506307.1:n.-80+104T>C
ENST00000680913.1:c.-45T>C	ENSP00000505640.1:n.-45T>C
ENST00000681115.1:c.-45T>C	ENSP00000505618.1:n.-45T>C
ENST00000681710.1:c.-80+104T>C	ENSP00000505865.1:n.-80+104T>C
ENST00000346652.10:c.-45T>C	ENSP00000314883.6:n.-45T>C
ENST00000403729.6:c.-45T>C	ENSP00000385575.2:n.-45T>C
ENST00000404191.5:c.-80+790T>C	ENSP00000384028.1:n.-80+790T>C
ENST00000506286.1:n.630-951T>C
ENST00000514959.1:n.248+6748T>C
NM_001145794.1:c.-45T>C	NP_001139266.1:n.-45T>C
NM_001286780.1:c.-80+790T>C	NP_001273709.1:n.-80+790T>C
NM_001286781.1:c.-80+104T>C	NP_001273710.1:n.-80+104T>C
NM_058172.5:c.-45T>C	NP_477520.2:n.-45T>C
XM_011531587.1:c.-80+790T>C	XP_011529889.1:n.-80+790T>C
XM_011531587.3:c.-80+790T>C	XP_011529889.1:n.-80+790T>C
NM_058172.6:c.-45T>C MANE Select	NP_477520.2:n.-45T>C
NM_001286780.2:c.-80+790T>C	NP_001273709.1:n.-80+790T>C
NM_001286781.2:c.-80+104T>C	NP_001273710.1:n.-80+104T>C
NM_001145794.2:c.-45T>C	NP_001139266.1:n.-45T>C