Canonical Allele Identifier: CA381649752
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933821A>G , CM000673.2:g.68933821A>G GRCh38
NC_000011.9:g.68701289A>G , CM000673.1:g.68701289A>G GRCh37
NC_000011.8:g.68457865A>G NCBI36
NG_007976.1:g.34971A>G , LRG_250:g.34971A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1445A>G MANE Select ENSP00000255078.4:p.Glu482Gly
ENST00000674955.1:c.*162A>G ENSP00000502463.1:n.*162A>G
ENST00000675118.1:c.933A>G
ENST00000675205.1:n.183+340A>G
ENST00000675615.1:c.1445A>G ENSP00000502413.1:p.Glu482Gly
ENST00000675648.1:n.820A>G
ENST00000675997.1:n.113-643A>G
ENST00000676173.1:n.2190A>G
ENST00000676228.1:c.*768A>G ENSP00000502375.1:n.*768A>G
ENST00000255078.7:c.1445A>G ENSP00000255078.3:p.Glu482Gly
ENST00000537458.5:n.562A>G
ENST00000539064.5:n.1204A>G
ENST00000541229.5:n.140A>G
ENST00000543739.5:n.562A>G
NM_002180.2:c.1445A>G , LRG_250t1:c.1445A>G NP_002171.2:p.Glu482Gly
XM_005273974.2:c.434A>G XP_005274031.1:p.Glu145Gly
XM_005273975.2:c.317A>G XP_005274032.1:p.Glu106Gly
XM_011544994.1:c.212A>G XP_011543296.1:p.Glu71Gly
XR_949903.1:n.1547A>G
XM_005273975.3:c.317A>G XP_005274032.1:p.Glu106Gly
XM_017017669.2:c.434A>G XP_016873158.1:p.Glu145Gly
XM_017017670.2:c.434A>G XP_016873159.1:p.Glu145Gly
XM_017017671.2:c.1445A>G XP_016873160.1:p.Glu482Gly
XR_949903.3:n.1543A>G
NM_002180.3:c.1445A>G MANE Select NP_002171.2:p.Glu482Gly