Canonical Allele Identifier: CA2614749568

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933827-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933830del , CM000673.2:g.68933830del	GRCh38
NC_000011.9:g.68701298del , CM000673.1:g.68701298del	GRCh37
NC_000011.8:g.68457874del	NCBI36
NG_007976.1:g.34980del , LRG_250:g.34980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1454del MANE Select	ENSP00000255078.4:p.Gly485ValfsTer?
ENST00000674955.1:c.*171del	ENSP00000502463.1:n.*171del
ENST00000675118.1:c.942del
ENST00000675205.1:n.183+349del
ENST00000675615.1:c.1454del	ENSP00000502413.1:p.Gly485ValfsTer?
ENST00000675648.1:n.829del
ENST00000675997.1:n.113-634del
ENST00000676173.1:n.2199del
ENST00000676228.1:c.*777del	ENSP00000502375.1:n.*777del
ENST00000255078.7:c.1454del	ENSP00000255078.3:p.Gly485ValfsTer?
ENST00000537458.5:n.571del
ENST00000539064.5:n.1213del
ENST00000541229.5:n.149del
ENST00000543739.5:n.571del
NM_002180.2:c.1454del , LRG_250t1:c.1454del	NP_002171.2:p.Gly485ValfsTer?
XM_005273974.2:c.443del	XP_005274031.1:p.Gly148ValfsTer?
XM_005273975.2:c.326del	XP_005274032.1:p.Gly109ValfsTer?
XM_011544994.1:c.221del	XP_011543296.1:p.Gly74ValfsTer?
XR_949903.1:n.1556del
XM_005273975.3:c.326del	XP_005274032.1:p.Gly109ValfsTer?
XM_017017669.2:c.443del	XP_016873158.1:p.Gly148ValfsTer?
XM_017017670.2:c.443del	XP_016873159.1:p.Gly148ValfsTer?
XM_017017671.2:c.1454del	XP_016873160.1:p.Gly485ValfsTer?
XR_949903.3:n.1552del
NM_002180.3:c.1454del MANE Select	NP_002171.2:p.Gly485ValfsTer?