Canonical Allele Identifier: CA600239817

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1296458321
• gnomAD v2: 11-68704050-CTCT-C
• gnomAD v4: 11-68936582-CTCT-C
• MyVariant Identifiers: chr11:g.68704051_68704053del (hg19) ; chr11:g.68936583_68936585del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936583_68936585del , CM000673.2:g.68936583_68936585del	GRCh38
NC_000011.9:g.68704051_68704053del , CM000673.1:g.68704051_68704053del	GRCh37
NC_000011.8:g.68460627_68460629del	NCBI36
NG_007976.1:g.37733_37735del , LRG_250:g.37733_37735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2103_2105del MANE Select	ENSP00000255078.4:p.Leu702del
ENST00000674675.1:c.347_349del
ENST00000674878.1:c.347_349del
ENST00000674955.1:c.*820_*822del	ENSP00000502463.1:n.*820_*822del
ENST00000675118.1:c.1591_1593del
ENST00000675389.1:n.378_380del
ENST00000675615.1:c.2103_2105del	ENSP00000502413.1:p.Leu702del
ENST00000675648.1:n.1478_1480del
ENST00000675916.1:c.347_349del
ENST00000676173.1:n.2848_2850del
ENST00000676182.1:c.534_536del
ENST00000676228.1:c.*1426_*1428del	ENSP00000502375.1:n.*1426_*1428del
ENST00000255078.7:c.2103_2105del	ENSP00000255078.3:p.Leu702del
ENST00000539064.5:n.1862_1864del
ENST00000543739.5:n.1096_1098del
NM_002180.2:c.2103_2105del , LRG_250t1:c.2103_2105del	NP_002171.2:p.Leu702del
XM_005273974.2:c.1092_1094del	XP_005274031.1:p.Leu365del
XM_005273975.2:c.975_977del	XP_005274032.1:p.Leu326del
XM_011544994.1:c.870_872del	XP_011543296.1:p.Leu291del
XR_949903.1:n.2205_2207del
XM_005273975.3:c.975_977del	XP_005274032.1:p.Leu326del
XM_017017669.2:c.1092_1094del	XP_016873158.1:p.Leu365del
XM_017017670.2:c.1092_1094del	XP_016873159.1:p.Leu365del
XR_949903.3:n.2201_2203del
NM_002180.3:c.2103_2105del MANE Select	NP_002171.2:p.Leu702del