Canonical Allele Identifier: CA2574904024
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908269_68908270insCCCACGATTTCCAGTGGAGC , CM000673.2:g.68908269_68908270insCCCACGATTTCCAGTGGAGC GRCh38
NC_000011.9:g.68675737_68675738insCCCACGATTTCCAGTGGAGC , CM000673.1:g.68675737_68675738insCCCACGATTTCCAGTGGAGC GRCh37
NC_000011.8:g.68432313_68432314insCCCACGATTTCCAGTGGAGC NCBI36
NG_007976.1:g.9419_9420insCCCACGATTTCCAGTGGAGC , LRG_250:g.9419_9420insCCCACGATTTCCAGTGGAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.381_382insCCCACGATTTCCAGTGGAGC MANE Select ENSP00000255078.4:p.Leu128ProfsTer17
ENST00000539224.2:c.344_345insCCCACGATTTCCAGTGGAGC
ENST00000674583.1:c.344_345insCCCACGATTTCCAGTGGAGC
ENST00000674597.1:c.192_193insCCCACGATTTCCAGTGGAGC
ENST00000674955.1:c.381_382insCCCACGATTTCCAGTGGAGC ENSP00000502463.1:p.Leu128ProfsTer17
ENST00000675142.1:n.344_345insCCCACGATTTCCAGTGGAGC
ENST00000675469.1:c.257_258insCCCACGATTTCCAGTGGAGC
ENST00000675615.1:c.381_382insCCCACGATTTCCAGTGGAGC ENSP00000502413.1:p.Leu128ProfsTer17
ENST00000675674.1:n.344_345insCCCACGATTTCCAGTGGAGC
ENST00000675873.1:c.344_345insCCCACGATTTCCAGTGGAGC
ENST00000676173.1:n.425_426insCCCACGATTTCCAGTGGAGC
ENST00000676228.1:c.381_382insCCCACGATTTCCAGTGGAGC ENSP00000502375.1:p.Leu128ProfsTer17
ENST00000255078.7:c.381_382insCCCACGATTTCCAGTGGAGC ENSP00000255078.3:p.Leu128ProfsTer17
ENST00000539224.1:c.381_382insCCCACGATTTCCAGTGGAGC ENSP00000440465.1:p.Leu128ProfsTer17
ENST00000544541.1:c.*121_*122insCCCACGATTTCCAGTGGAGC ENSP00000443343.1:n.*121_*122insCCCACGATTTCCAGTGGAGC
NM_002180.2:c.381_382insCCCACGATTTCCAGTGGAGC , LRG_250t1:c.381_382insCCCACGATTTCCAGTGGAGC NP_002171.2:p.Leu128ProfsTer17
XM_005273974.2:c.-631_-630insCCCACGATTTCCAGTGGAGC XP_005274031.1:n.-631_-630insCCCACGATTTCCAGTGGAGC
XM_005273976.1:c.381_382insCCCACGATTTCCAGTGGAGC XP_005274033.1:p.Leu128ProfsTer17
XR_247198.1:n.483_484insCCCACGATTTCCAGTGGAGC
XR_949903.1:n.483_484insCCCACGATTTCCAGTGGAGC
XM_005273976.2:c.381_382insCCCACGATTTCCAGTGGAGC XP_005274033.1:p.Leu128ProfsTer17
XM_017017669.2:c.-533_-532insCCCACGATTTCCAGTGGAGC XP_016873158.1:n.-533_-532insCCCACGATTTCCAGTGGAGC
XM_017017671.2:c.381_382insCCCACGATTTCCAGTGGAGC XP_016873160.1:p.Leu128ProfsTer17
XR_949903.3:n.479_480insCCCACGATTTCCAGTGGAGC
NM_002180.3:c.381_382insCCCACGATTTCCAGTGGAGC MANE Select NP_002171.2:p.Leu128ProfsTer17