Canonical Allele Identifier: CA6154036
Gene: IGHMBP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.68939586G>A
GRCh37 chr11:g.68707054G>A
Revel Score:
ENST00000255078 (MANE Select) 0.089
gnomAD v2:
11:68707054 G / A
gnomAD v3:
11:68939586 G / A
gnomAD v4:
chr11-68939586-G-A
Joint Max Group AF 0.00093333 (NFE)
Genomes Max Group AF 0.00103474 (NFE)
Exomes Max Group AF 0.00091585 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68939586G>A , CM000673.2:g.68939586G>A GRCh38
NC_000011.9:g.68707054G>A , CM000673.1:g.68707054G>A GRCh37
NC_000011.8:g.68463630G>A NCBI36
NG_007976.1:g.40736G>A , LRG_250:g.40736G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2837G>A MANE Select ENSP00000255078.4:p.Arg946Gln
ENST00000675118.1:c.2325G>A
ENST00000675615.1:c.*36G>A ENSP00000502413.1:n.*36G>A
ENST00000675648.1:n.2399G>A
ENST00000675916.1:c.1268G>A
ENST00000676173.1:n.3582G>A
ENST00000255078.7:c.2837G>A ENSP00000255078.3:p.Arg946Gln
ENST00000543739.5:n.1830G>A
ENST00000544521.1:n.668G>A
NM_002180.2:c.2837G>A , LRG_250t1:c.2837G>A NP_002171.2:p.Arg946Gln
XM_005273974.2:c.1826G>A XP_005274031.1:p.Arg609Gln
XM_005273975.2:c.1709G>A XP_005274032.1:p.Arg570Gln
XM_011544994.1:c.1604G>A XP_011543296.1:p.Arg535Gln
XR_949903.1:n.3126G>A
XM_005273975.3:c.1709G>A XP_005274032.1:p.Arg570Gln
XM_017017669.2:c.1826G>A XP_016873158.1:p.Arg609Gln
XM_017017670.2:c.1826G>A XP_016873159.1:p.Arg609Gln
XR_949903.3:n.3122G>A
NM_002180.3:c.2837G>A MANE Select NP_002171.2:p.Arg946Gln
Search 100 bp 5'
Search 100 bp 3'