Canonical Allele Identifier: CA2614749050

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936696-GCAAGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936697_68936702del , CM000673.2:g.68936697_68936702del	GRCh38
NC_000011.9:g.68704165_68704170del , CM000673.1:g.68704165_68704170del	GRCh37
NC_000011.8:g.68460741_68460746del	NCBI36
NG_007976.1:g.37847_37852del , LRG_250:g.37847_37852del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2217_2222del MANE Select	ENSP00000255078.4:p.Ser739_Lys741delinsArg
ENST00000674675.1:c.461_466del
ENST00000674878.1:c.461_466del
ENST00000674955.1:c.*934_*939del	ENSP00000502463.1:n.*934_*939del
ENST00000675118.1:c.1705_1710del
ENST00000675389.1:n.492_497del
ENST00000675615.1:c.2217_2222del	ENSP00000502413.1:p.Ser739_Lys741delinsArg
ENST00000675648.1:n.1592_1597del
ENST00000675916.1:c.461_466del
ENST00000676173.1:n.2962_2967del
ENST00000676182.1:c.648_653del
ENST00000676228.1:c.*1540_*1545del	ENSP00000502375.1:n.*1540_*1545del
ENST00000255078.7:c.2217_2222del	ENSP00000255078.3:p.Ser739_Lys741delinsArg
ENST00000539064.5:n.1976_1981del
ENST00000543739.5:n.1210_1215del
NM_002180.2:c.2217_2222del , LRG_250t1:c.2217_2222del	NP_002171.2:p.Ser739_Lys741delinsArg
XM_005273974.2:c.1206_1211del	XP_005274031.1:p.Ser402_Lys404delinsArg
XM_005273975.2:c.1089_1094del	XP_005274032.1:p.Ser363_Lys365delinsArg
XM_011544994.1:c.984_989del	XP_011543296.1:p.Ser328_Lys330delinsArg
XR_949903.1:n.2319_2324del
XM_005273975.3:c.1089_1094del	XP_005274032.1:p.Ser363_Lys365delinsArg
XM_017017669.2:c.1206_1211del	XP_016873158.1:p.Ser402_Lys404delinsArg
XM_017017670.2:c.1206_1211del	XP_016873159.1:p.Ser402_Lys404delinsArg
XR_949903.3:n.2315_2320del
NM_002180.3:c.2217_2222del MANE Select	NP_002171.2:p.Ser739_Lys741delinsArg