Canonical Allele Identifier: CA2614748087

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936239-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936241del , CM000673.2:g.68936241del	GRCh38
NC_000011.9:g.68703709del , CM000673.1:g.68703709del	GRCh37
NC_000011.8:g.68460285del	NCBI36
NG_007976.1:g.37391del , LRG_250:g.37391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1761del MANE Select	ENSP00000255078.4:p.Val588LeufsTer?
ENST00000674675.1:c.5del
ENST00000674878.1:c.5del
ENST00000674955.1:c.*478del	ENSP00000502463.1:n.*478del
ENST00000675118.1:c.1249del
ENST00000675389.1:n.36del
ENST00000675615.1:c.1761del	ENSP00000502413.1:p.Val588LeufsTer?
ENST00000675648.1:n.1136del
ENST00000675916.1:c.5del
ENST00000676173.1:n.2506del
ENST00000676182.1:c.192del
ENST00000676228.1:c.*1084del	ENSP00000502375.1:n.*1084del
ENST00000255078.7:c.1761del	ENSP00000255078.3:p.Val588LeufsTer?
ENST00000539064.5:n.1520del
ENST00000541229.5:n.456del
ENST00000543739.5:n.754del
ENST00000545475.1:n.357del
NM_002180.2:c.1761del , LRG_250t1:c.1761del	NP_002171.2:p.Val588LeufsTer?
XM_005273974.2:c.750del	XP_005274031.1:p.Val251LeufsTer?
XM_005273975.2:c.633del	XP_005274032.1:p.Val212LeufsTer?
XM_011544994.1:c.528del	XP_011543296.1:p.Val177LeufsTer?
XR_949903.1:n.1863del
XM_005273975.3:c.633del	XP_005274032.1:p.Val212LeufsTer?
XM_017017669.2:c.750del	XP_016873158.1:p.Val251LeufsTer?
XM_017017670.2:c.750del	XP_016873159.1:p.Val251LeufsTer?
XR_949903.3:n.1859del
NM_002180.3:c.1761del MANE Select	NP_002171.2:p.Val588LeufsTer?