Canonical Allele Identifier: CA2842590106
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936610dup , CM000673.2:g.68936610dup GRCh38
NC_000011.9:g.68704078dup , CM000673.1:g.68704078dup GRCh37
NC_000011.8:g.68460654dup NCBI36
NG_007976.1:g.37760dup , LRG_250:g.37760dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2130dup MANE Select ENSP00000255078.4:p.Ser711GlnfsTer?
ENST00000674675.1:c.374dup
ENST00000674878.1:c.374dup
ENST00000674955.1:c.*847dup ENSP00000502463.1:n.*847dup
ENST00000675118.1:c.1618dup
ENST00000675389.1:n.405dup
ENST00000675615.1:c.2130dup ENSP00000502413.1:p.Ser711GlnfsTer?
ENST00000675648.1:n.1505dup
ENST00000675916.1:c.374dup
ENST00000676173.1:n.2875dup
ENST00000676182.1:c.561dup
ENST00000676228.1:c.*1453dup ENSP00000502375.1:n.*1453dup
ENST00000255078.7:c.2130dup ENSP00000255078.3:p.Ser711GlnfsTer?
ENST00000539064.5:n.1889dup
ENST00000543739.5:n.1123dup
NM_002180.2:c.2130dup , LRG_250t1:c.2130dup NP_002171.2:p.Ser711GlnfsTer?
XM_005273974.2:c.1119dup XP_005274031.1:p.Ser374GlnfsTer?
XM_005273975.2:c.1002dup XP_005274032.1:p.Ser335GlnfsTer?
XM_011544994.1:c.897dup XP_011543296.1:p.Ser300GlnfsTer?
XR_949903.1:n.2232dup
XM_005273975.3:c.1002dup XP_005274032.1:p.Ser335GlnfsTer?
XM_017017669.2:c.1119dup XP_016873158.1:p.Ser374GlnfsTer?
XM_017017670.2:c.1119dup XP_016873159.1:p.Ser374GlnfsTer?
XR_949903.3:n.2228dup
NM_002180.3:c.2130dup MANE Select NP_002171.2:p.Ser711GlnfsTer?