Canonical Allele Identifier: CA2580084778

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2030959
• ClinVar RCV Id: RCV002898718

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933485_68933486del , CM000673.2:g.68933485_68933486del	GRCh38
NC_000011.9:g.68700953_68700954del , CM000673.1:g.68700953_68700954del	GRCh37
NC_000011.8:g.68457529_68457530del	NCBI36
NG_007976.1:g.34635_34636del , LRG_250:g.34635_34636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1418+4_1418+5del MANE Select	ENSP00000255078.4:n.1418+4_1418+5del
ENST00000674955.1:c.*135+4_*135+5del	ENSP00000502463.1:n.*135+4_*135+5del
ENST00000675118.1:c.906+4_906+5del
ENST00000675205.1:n.183+4_183+5del
ENST00000675615.1:c.1418+4_1418+5del	ENSP00000502413.1:n.1418+4_1418+5del
ENST00000675648.1:n.793+4_793+5del
ENST00000675997.1:n.113-979_113-978del
ENST00000676173.1:n.2163+4_2163+5del
ENST00000676228.1:c.*741+4_*741+5del	ENSP00000502375.1:n.*741+4_*741+5del
ENST00000255078.7:c.1418+4_1418+5del	ENSP00000255078.3:n.1418+4_1418+5del
ENST00000537458.5:n.535+4_535+5del
ENST00000539064.5:n.1177+4_1177+5del
ENST00000543739.5:n.535+4_535+5del
NM_002180.2:c.1418+4_1418+5del , LRG_250t1:c.1418+4_1418+5del	NP_002171.2:n.1418+4_1418+5del
XM_005273974.2:c.407+4_407+5del	XP_005274031.1:n.407+4_407+5del
XM_005273975.2:c.290+4_290+5del	XP_005274032.1:n.290+4_290+5del
XM_011544994.1:c.185+4_185+5del	XP_011543296.1:n.185+4_185+5del
XR_949903.1:n.1520+4_1520+5del
XM_005273975.3:c.290+4_290+5del	XP_005274032.1:n.290+4_290+5del
XM_017017669.2:c.407+4_407+5del	XP_016873158.1:n.407+4_407+5del
XM_017017670.2:c.407+4_407+5del	XP_016873159.1:n.407+4_407+5del
XM_017017671.2:c.1418+4_1418+5del	XP_016873160.1:n.1418+4_1418+5del
XR_949903.3:n.1516+4_1516+5del
NM_002180.3:c.1418+4_1418+5del MANE Select	NP_002171.2:n.1418+4_1418+5del