Canonical Allele Identifier: CA2842590107
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936636dup , CM000673.2:g.68936636dup GRCh38
NC_000011.9:g.68704104dup , CM000673.1:g.68704104dup GRCh37
NC_000011.8:g.68460680dup NCBI36
NG_007976.1:g.37786dup , LRG_250:g.37786dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2156dup MANE Select ENSP00000255078.4:p.Val720SerfsTer?
ENST00000674675.1:c.400dup
ENST00000674878.1:c.400dup
ENST00000674955.1:c.*873dup ENSP00000502463.1:n.*873dup
ENST00000675118.1:c.1644dup
ENST00000675389.1:n.431dup
ENST00000675615.1:c.2156dup ENSP00000502413.1:p.Val720SerfsTer?
ENST00000675648.1:n.1531dup
ENST00000675916.1:c.400dup
ENST00000676173.1:n.2901dup
ENST00000676182.1:c.587dup
ENST00000676228.1:c.*1479dup ENSP00000502375.1:n.*1479dup
ENST00000255078.7:c.2156dup ENSP00000255078.3:p.Val720SerfsTer?
ENST00000539064.5:n.1915dup
ENST00000543739.5:n.1149dup
NM_002180.2:c.2156dup , LRG_250t1:c.2156dup NP_002171.2:p.Val720SerfsTer?
XM_005273974.2:c.1145dup XP_005274031.1:p.Val383SerfsTer?
XM_005273975.2:c.1028dup XP_005274032.1:p.Val344SerfsTer?
XM_011544994.1:c.923dup XP_011543296.1:p.Val309SerfsTer?
XR_949903.1:n.2258dup
XM_005273975.3:c.1028dup XP_005274032.1:p.Val344SerfsTer?
XM_017017669.2:c.1145dup XP_016873158.1:p.Val383SerfsTer?
XM_017017670.2:c.1145dup XP_016873159.1:p.Val383SerfsTer?
XR_949903.3:n.2254dup
NM_002180.3:c.2156dup MANE Select NP_002171.2:p.Val720SerfsTer?