Canonical Allele Identifier: CA6153653
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 217450
dbSNP Id: rs780594709

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933854C>T , CM000673.2:g.68933854C>T GRCh38
NC_000011.9:g.68701322C>T , CM000673.1:g.68701322C>T GRCh37
NC_000011.8:g.68457898C>T NCBI36
NG_007976.1:g.35004C>T , LRG_250:g.35004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1478C>T MANE Select ENSP00000255078.4:p.Thr493Ile
ENST00000674955.1:c.*195C>T ENSP00000502463.1:n.*195C>T
ENST00000675118.1:c.966C>T
ENST00000675205.1:n.183+373C>T
ENST00000675615.1:c.1478C>T ENSP00000502413.1:p.Thr493Ile
ENST00000675648.1:n.853C>T
ENST00000675997.1:n.113-610C>T
ENST00000676173.1:n.2223C>T
ENST00000676228.1:c.*801C>T ENSP00000502375.1:n.*801C>T
ENST00000255078.7:c.1478C>T ENSP00000255078.3:p.Thr493Ile
ENST00000537458.5:n.595C>T
ENST00000539064.5:n.1237C>T
ENST00000541229.5:n.173C>T
ENST00000543739.5:n.595C>T
NM_002180.2:c.1478C>T , LRG_250t1:c.1478C>T NP_002171.2:p.Thr493Ile
XM_005273974.2:c.467C>T XP_005274031.1:p.Thr156Ile
XM_005273975.2:c.350C>T XP_005274032.1:p.Thr117Ile
XM_011544994.1:c.245C>T XP_011543296.1:p.Thr82Ile
XR_949903.1:n.1580C>T
XM_005273975.3:c.350C>T XP_005274032.1:p.Thr117Ile
XM_017017669.2:c.467C>T XP_016873158.1:p.Thr156Ile
XM_017017670.2:c.467C>T XP_016873159.1:p.Thr156Ile
XM_017017671.2:c.1478C>T XP_016873160.1:p.Thr493Ile
XR_949903.3:n.1576C>T
NM_002180.3:c.1478C>T MANE Select NP_002171.2:p.Thr493Ile