Canonical Allele Identifier: CA475204301
Gene: IGHMBP2 HGNC NCBI

Linked Data

COSMIC: COSM111617
MyVariant Identifiers: chr11:g.68703762del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936294del , CM000673.2:g.68936294del GRCh38
NC_000011.9:g.68703762del , CM000673.1:g.68703762del GRCh37
NC_000011.8:g.68460338del NCBI36
NG_007976.1:g.37444del , LRG_250:g.37444del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1814del MANE Select ENSP00000255078.4:p.Arg605HisfsTer19
ENST00000674675.1:c.58del
ENST00000674878.1:c.58del
ENST00000674955.1:c.*531del ENSP00000502463.1:n.*531del
ENST00000675118.1:c.1302del
ENST00000675389.1:n.89del
ENST00000675615.1:c.1814del ENSP00000502413.1:p.Arg605HisfsTer19
ENST00000675648.1:n.1189del
ENST00000675916.1:c.58del
ENST00000676173.1:n.2559del
ENST00000676182.1:c.245del
ENST00000676228.1:c.*1137del ENSP00000502375.1:n.*1137del
ENST00000255078.7:c.1814del ENSP00000255078.3:p.Arg605HisfsTer19
ENST00000539064.5:n.1573del
ENST00000541229.5:n.509del
ENST00000543739.5:n.807del
ENST00000545475.1:n.410del
NM_002180.2:c.1814del , LRG_250t1:c.1814del NP_002171.2:p.Arg605HisfsTer19
XM_005273974.2:c.803del XP_005274031.1:p.Arg268HisfsTer19
XM_005273975.2:c.686del XP_005274032.1:p.Arg229HisfsTer19
XM_011544994.1:c.581del XP_011543296.1:p.Arg194HisfsTer19
XR_949903.1:n.1916del
XM_005273975.3:c.686del XP_005274032.1:p.Arg229HisfsTer19
XM_017017669.2:c.803del XP_016873158.1:p.Arg268HisfsTer19
XM_017017670.2:c.803del XP_016873159.1:p.Arg268HisfsTer19
XR_949903.3:n.1912del
NM_002180.3:c.1814del MANE Select NP_002171.2:p.Arg605HisfsTer19