Canonical Allele Identifier: CA6153805

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2498526
• ClinVar RCV Id: RCV003222735
• dbSNP Id: rs777148718
• ExAC: 11:68703863 GC / G
• gnomAD v2: 11-68703863-GC-G
• gnomAD v3: 11-68936395-GC-G
• gnomAD v4: 11-68936395-GC-G
• MyVariant Identifiers: chr11:g.68703864del (hg19) ; chr11:g.68936396del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936397del , CM000673.2:g.68936397del	GRCh38
NC_000011.9:g.68703865del , CM000673.1:g.68703865del	GRCh37
NC_000011.8:g.68460441del	NCBI36
NG_007976.1:g.37547del , LRG_250:g.37547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1917del MANE Select	ENSP00000255078.4:p.Phe640LeufsTer?
ENST00000674675.1:c.161del
ENST00000674878.1:c.161del
ENST00000674955.1:c.*634del	ENSP00000502463.1:n.*634del
ENST00000675118.1:c.1405del
ENST00000675389.1:n.192del
ENST00000675615.1:c.1917del	ENSP00000502413.1:p.Phe640LeufsTer?
ENST00000675648.1:n.1292del
ENST00000675916.1:c.161del
ENST00000676173.1:n.2662del
ENST00000676182.1:c.348del
ENST00000676228.1:c.*1240del	ENSP00000502375.1:n.*1240del
ENST00000255078.7:c.1917del	ENSP00000255078.3:p.Phe640LeufsTer?
ENST00000539064.5:n.1676del
ENST00000543739.5:n.910del
ENST00000545475.1:n.513del
NM_002180.2:c.1917del , LRG_250t1:c.1917del	NP_002171.2:p.Phe640LeufsTer?
XM_005273974.2:c.906del	XP_005274031.1:p.Phe303LeufsTer?
XM_005273975.2:c.789del	XP_005274032.1:p.Phe264LeufsTer?
XM_011544994.1:c.684del	XP_011543296.1:p.Phe229LeufsTer?
XR_949903.1:n.2019del
XM_005273975.3:c.789del	XP_005274032.1:p.Phe264LeufsTer?
XM_017017669.2:c.906del	XP_016873158.1:p.Phe303LeufsTer?
XM_017017670.2:c.906del	XP_016873159.1:p.Phe303LeufsTer?
XR_949903.3:n.2015del
NM_002180.3:c.1917del MANE Select	NP_002171.2:p.Phe640LeufsTer?