Canonical Allele Identifier: CA475280887
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704380del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936915del , CM000673.2:g.68936915del GRCh38
NC_000011.9:g.68704383del , CM000673.1:g.68704383del GRCh37
NC_000011.8:g.68460959del NCBI36
NG_007976.1:g.38065del , LRG_250:g.38065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2435del MANE Select ENSP00000255078.4:p.Pro812LeufsTer19
ENST00000674675.1:c.588-8del
ENST00000674878.1:c.548-8del
ENST00000675118.1:c.1923del
ENST00000675389.1:n.710del
ENST00000675615.1:c.2435del ENSP00000502413.1:p.Pro812LeufsTer19
ENST00000675648.1:n.1810del
ENST00000675916.1:c.679del
ENST00000676173.1:n.3180del
ENST00000676182.1:c.866del
ENST00000676228.1:c.*1758del ENSP00000502375.1:n.*1758del
ENST00000255078.7:c.2435del ENSP00000255078.3:p.Pro812LeufsTer19
ENST00000539064.5:n.2194del
ENST00000543739.5:n.1428del
NM_002180.2:c.2435del , LRG_250t1:c.2435del NP_002171.2:p.Pro812LeufsTer19
XM_005273974.2:c.1424del XP_005274031.1:p.Pro475LeufsTer19
XM_005273975.2:c.1307del XP_005274032.1:p.Pro436LeufsTer19
XM_011544994.1:c.1202del XP_011543296.1:p.Pro401LeufsTer19
XR_949903.1:n.2537del
XM_005273975.3:c.1307del XP_005274032.1:p.Pro436LeufsTer19
XM_017017669.2:c.1424del XP_016873158.1:p.Pro475LeufsTer19
XM_017017670.2:c.1424del XP_016873159.1:p.Pro475LeufsTer19
XR_949903.3:n.2533del
NM_002180.3:c.2435del MANE Select NP_002171.2:p.Pro812LeufsTer19