Canonical Allele Identifier: CA223413857

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs866201134
• MyVariant Identifiers: chr11:g.68704498_68704500del (hg19) ; chr11:g.68937030_68937032del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937030_68937032del , CM000673.2:g.68937030_68937032del	GRCh38
NC_000011.9:g.68704498_68704500del , CM000673.1:g.68704498_68704500del	GRCh37
NC_000011.8:g.68461074_68461076del	NCBI36
NG_007976.1:g.38180_38182del , LRG_250:g.38180_38182del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2550_2552del MANE Select	ENSP00000255078.4:p.Ser850_Lys851delinsArg
ENST00000674675.1:c.695_697del
ENST00000674878.1:c.655_657del
ENST00000675118.1:c.2038_2040del
ENST00000675389.1:n.825_827del
ENST00000675615.1:c.2550_2552del	ENSP00000502413.1:p.Ser850_Lys851delinsArg
ENST00000675648.1:n.1925_1927del
ENST00000675916.1:c.794_796del
ENST00000676173.1:n.3295_3297del
ENST00000676182.1:c.981_983del
ENST00000676228.1:c.*1873_*1875del	ENSP00000502375.1:n.*1873_*1875del
ENST00000255078.7:c.2550_2552del	ENSP00000255078.3:p.Ser850_Lys851delinsArg
ENST00000539064.5:n.2309_2311del
ENST00000543739.5:n.1543_1545del
NM_002180.2:c.2550_2552del , LRG_250t1:c.2550_2552del	NP_002171.2:p.Ser850_Lys851delinsArg
XM_005273974.2:c.1539_1541del	XP_005274031.1:p.Ser513_Lys514delinsArg
XM_005273975.2:c.1422_1424del	XP_005274032.1:p.Ser474_Lys475delinsArg
XM_011544994.1:c.1317_1319del	XP_011543296.1:p.Ser439_Lys440delinsArg
XR_949903.1:n.2652_2654del
XM_005273975.3:c.1422_1424del	XP_005274032.1:p.Ser474_Lys475delinsArg
XM_017017669.2:c.1539_1541del	XP_016873158.1:p.Ser513_Lys514delinsArg
XM_017017670.2:c.1539_1541del	XP_016873159.1:p.Ser513_Lys514delinsArg
XR_949903.3:n.2648_2650del
NM_002180.3:c.2550_2552del MANE Select	NP_002171.2:p.Ser850_Lys851delinsArg