Canonical Allele Identifier: CA6153974
Gene: IGHMBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68938213G>A
GRCh37 chr11:g.68705681G>A
gnomAD v2:
11:68705681 G / A
gnomAD v3:
11:68938213 G / A
gnomAD v4:
chr11-68938213-G-A
Joint Max Group AF 0.00002153 (NFE)
Genomes Max Group AF 0.00004764 (NFE)
Exomes Max Group AF 0.00001746 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68938213G>A , CM000673.2:g.68938213G>A GRCh38
NC_000011.9:g.68705681G>A , CM000673.1:g.68705681G>A GRCh37
NC_000011.8:g.68462257G>A NCBI36
NG_007976.1:g.39363G>A , LRG_250:g.39363G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2643G>A MANE Select ENSP00000255078.4:p.Glu881=
ENST00000674675.1:c.788G>A
ENST00000674878.1:c.748G>A
ENST00000675118.1:c.2131G>A
ENST00000675615.1:c.2611+1122G>A ENSP00000502413.1:n.2611+1122G>A
ENST00000675648.1:n.2018G>A
ENST00000675916.1:c.887G>A
ENST00000676173.1:n.3388G>A
ENST00000255078.7:c.2643G>A ENSP00000255078.3:p.Glu881=
ENST00000543739.5:n.1636G>A
ENST00000544521.1:n.474G>A
NM_002180.2:c.2643G>A , LRG_250t1:c.2643G>A NP_002171.2:p.Glu881=
XM_005273974.2:c.1632G>A XP_005274031.1:p.Glu544=
XM_005273975.2:c.1515G>A XP_005274032.1:p.Glu505=
XM_011544994.1:c.1410G>A XP_011543296.1:p.Glu470=
XR_949903.1:n.2745G>A
XM_005273975.3:c.1515G>A XP_005274032.1:p.Glu505=
XM_017017669.2:c.1632G>A XP_016873158.1:p.Glu544=
XM_017017670.2:c.1632G>A XP_016873159.1:p.Glu544=
XR_949903.3:n.2741G>A
NM_002180.3:c.2643G>A MANE Select NP_002171.2:p.Glu881=
Search 100 bp 5'
Search 100 bp 3'