Canonical Allele Identifier: CA475280753
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704237G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936769G>A , CM000673.2:g.68936769G>A GRCh38
NC_000011.9:g.68704237G>A , CM000673.1:g.68704237G>A GRCh37
NC_000011.8:g.68460813G>A NCBI36
NG_007976.1:g.37919G>A , LRG_250:g.37919G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2289G>A MANE Select ENSP00000255078.4:p.Glu763=
ENST00000674675.1:c.533G>A
ENST00000674878.1:c.533G>A
ENST00000674955.1:c.*1006G>A ENSP00000502463.1:n.*1006G>A
ENST00000675118.1:c.1777G>A
ENST00000675389.1:n.564G>A
ENST00000675615.1:c.2289G>A ENSP00000502413.1:p.Glu763=
ENST00000675648.1:n.1664G>A
ENST00000675916.1:c.533G>A
ENST00000676173.1:n.3034G>A
ENST00000676182.1:c.720G>A
ENST00000676228.1:c.*1612G>A ENSP00000502375.1:n.*1612G>A
ENST00000255078.7:c.2289G>A ENSP00000255078.3:p.Glu763=
ENST00000539064.5:n.2048G>A
ENST00000543739.5:n.1282G>A
NM_002180.2:c.2289G>A , LRG_250t1:c.2289G>A NP_002171.2:p.Glu763=
XM_005273974.2:c.1278G>A XP_005274031.1:p.Glu426=
XM_005273975.2:c.1161G>A XP_005274032.1:p.Glu387=
XM_011544994.1:c.1056G>A XP_011543296.1:p.Glu352=
XR_949903.1:n.2391G>A
XM_005273975.3:c.1161G>A XP_005274032.1:p.Glu387=
XM_017017669.2:c.1278G>A XP_016873158.1:p.Glu426=
XM_017017670.2:c.1278G>A XP_016873159.1:p.Glu426=
XR_949903.3:n.2387G>A
NM_002180.3:c.2289G>A MANE Select NP_002171.2:p.Glu763=