Canonical Allele Identifier: CA144798

Gene: HNRNPA2B1

Linked Data

• ClinVar Variation Id: 65454
• ClinVar RCV Id: RCV000055652
• dbSNP Id: rs397515326
• MyVariant Identifiers: chr7:g.26232966T>A (hg19) ; chr7:g.26193346T>A (hg38)
• PubMed: PMID:11891683 ; PMID:23455423

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.26193346T>A , CM000669.2:g.26193346T>A	GRCh38
NC_000007.13:g.26232966T>A , CM000669.1:g.26232966T>A	GRCh37
NC_000007.12:g.26199491T>A	NCBI36
NG_029680.1:g.12448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356674.8:c.905A>T	ENSP00000349101.8:p.Asp302Val
ENST00000476233.2:n.1794A>T
ENST00000490912.6:n.4660A>T
ENST00000608362.2:c.869A>T	ENSP00000497298.1:p.Asp290Val
ENST00000618183.5:c.869A>T MANE Select	ENSP00000478691.2:p.Asp290Val
ENST00000676497.1:c.869A>T	ENSP00000503836.1:p.Asp290Val
ENST00000676524.1:c.869A>T	ENSP00000504831.1:p.Asp290Val
ENST00000676746.1:c.905A>T	ENSP00000504329.1:p.Asp302Val
ENST00000676749.1:c.869A>T	ENSP00000504799.1:p.Asp290Val
ENST00000676903.1:c.869A>T	ENSP00000504660.1:p.Asp290Val
ENST00000676932.1:n.1794A>T
ENST00000677037.1:c.*228A>T	ENSP00000504100.1:n.*228A>T
ENST00000677075.1:n.2150A>T
ENST00000677321.1:c.749A>T	ENSP00000504049.1:p.Asp250Val
ENST00000677339.1:c.869A>T	ENSP00000503242.1:p.Asp290Val
ENST00000677396.1:c.869A>T	ENSP00000503703.1:p.Asp290Val
ENST00000677571.1:c.869A>T	ENSP00000503550.1:p.Asp290Val
ENST00000677574.1:c.869A>T	ENSP00000503021.1:p.Asp290Val
ENST00000677631.1:c.869A>T	ENSP00000503452.1:p.Asp290Val
ENST00000677656.1:c.869A>T	ENSP00000503060.1:p.Asp290Val
ENST00000677669.1:n.1741A>T
ENST00000677839.1:c.869A>T	ENSP00000504439.1:p.Asp290Val
ENST00000677906.1:c.869A>T	ENSP00000503870.1:p.Asp290Val
ENST00000678035.1:c.749A>T	ENSP00000503190.1:p.Asp250Val
ENST00000678075.1:c.749A>T	ENSP00000503898.1:p.Asp250Val
ENST00000678183.1:c.800A>T	ENSP00000503968.1:p.Asp267Val
ENST00000678277.1:c.*387A>T	ENSP00000504059.1:n.*387A>T
ENST00000678431.1:c.869A>T	ENSP00000503833.1:p.Asp290Val
ENST00000678449.1:c.869A>T	ENSP00000503375.1:p.Asp290Val
ENST00000678501.1:c.869A>T	ENSP00000503961.1:p.Asp290Val
ENST00000678631.1:c.722-769A>T	ENSP00000503915.1:n.722-769A>T
ENST00000678675.1:c.905A>T	ENSP00000503476.1:p.Asp302Val
ENST00000678697.1:c.869A>T	ENSP00000503047.1:p.Asp290Val
ENST00000678779.1:c.869A>T	ENSP00000503429.1:p.Asp290Val
ENST00000678884.1:c.869A>T	ENSP00000503501.1:p.Asp290Val
ENST00000678935.1:c.869A>T	ENSP00000504023.1:p.Asp290Val
ENST00000678962.1:c.869A>T	ENSP00000504721.1:p.Asp290Val
ENST00000678973.1:c.773A>T	ENSP00000503521.1:p.Asp258Val
ENST00000678998.1:c.869A>T	ENSP00000503460.1:p.Asp290Val
ENST00000679001.1:c.905A>T	ENSP00000503514.1:p.Asp302Val
ENST00000679021.1:c.905A>T	ENSP00000503885.1:p.Asp302Val
ENST00000679123.1:c.905A>T	ENSP00000503360.1:p.Asp302Val
ENST00000679124.1:c.845A>T	ENSP00000503236.1:p.Asp282Val
ENST00000679243.1:c.869A>T	ENSP00000504415.1:p.Asp290Val
ENST00000679318.1:c.869A>T	ENSP00000504571.1:p.Asp290Val
ENST00000354667.8:c.905A>T	ENSP00000346694.4:p.Asp302Val
ENST00000356674.7:c.869A>T	ENSP00000349101.7:p.Asp290Val
ENST00000360787.8:c.905A>T	ENSP00000354021.4:p.Asp302Val
ENST00000463181.5:n.3915A>T
ENST00000490912.5:n.4660A>T
ENST00000618183.4:c.742A>T	ENSP00000478691.1:p.Ile248Phe
NM_002137.3:c.869A>T	NP_002128.1:p.Asp290Val
NM_031243.2:c.905A>T	NP_112533.1:p.Asp302Val
XM_005249729.1:c.905A>T	XP_005249786.1:p.Asp302Val
XM_006715714.1:c.785A>T	XP_006715777.1:p.Asp262Val
XR_242076.1:n.1103A>T
XR_242077.1:n.1103A>T
XR_428077.1:n.1103A>T
XR_428078.1:n.1103A>T
XM_017012109.2:c.869A>T	XP_016867598.1:p.Asp290Val
XM_017012110.2:c.869A>T	XP_016867599.1:p.Asp290Val
XR_001744662.1:n.1103A>T
XR_001744663.1:n.1103A>T
XR_001744664.1:n.1103A>T
XR_001744665.1:n.1103A>T
XR_001744666.2:n.1103A>T
XR_001744667.2:n.1066A>T
XR_001744668.2:n.1066A>T
XR_001744669.2:n.1066A>T
XR_001744670.2:n.1066A>T
XR_001744671.2:n.1066A>T
XR_001744672.2:n.1066A>T
XR_001744673.2:n.1066A>T
XR_001744674.2:n.1066A>T
XR_001744675.1:n.983A>T
XR_002956424.1:n.983A>T
XR_002956425.1:n.946A>T
XR_242077.2:n.1103A>T
NM_002137.4:c.869A>T MANE Select	NP_002128.1:p.Asp290Val
NM_031243.3:c.905A>T	NP_112533.1:p.Asp302Val