Canonical Allele Identifier: CA645369513

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 429896
• ClinVar RCV Id: RCV000494030 ; RCV001332103 ; RCV003311828
• dbSNP Id: rs1131691657

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908180_68908191delinsATGCT , CM000673.2:g.68908180_68908191delinsATGCT	GRCh38
NC_000011.9:g.68675648_68675659delinsATGCT , CM000673.1:g.68675648_68675659delinsATGCT	GRCh37
NC_000011.8:g.68432224_68432235delinsATGCT	NCBI36
NG_007976.1:g.9330_9341delinsATGCT , LRG_250:g.9330_9341delinsATGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.292_303delinsATGCT MANE Select	ENSP00000255078.4:p.Gly98MetfsTer7
ENST00000539224.2:c.255_266delinsATGCT
ENST00000674583.1:c.255_266delinsATGCT
ENST00000674597.1:c.103_114delinsATGCT
ENST00000674955.1:c.292_303delinsATGCT	ENSP00000502463.1:p.Gly98MetfsTer7
ENST00000675142.1:n.255_266delinsATGCT
ENST00000675469.1:c.168_179delinsATGCT
ENST00000675615.1:c.292_303delinsATGCT	ENSP00000502413.1:p.Gly98MetfsTer7
ENST00000675674.1:n.255_266delinsATGCT
ENST00000675873.1:c.255_266delinsATGCT
ENST00000676173.1:n.336_347delinsATGCT
ENST00000676228.1:c.292_303delinsATGCT	ENSP00000502375.1:p.Gly98MetfsTer7
ENST00000255078.7:c.292_303delinsATGCT	ENSP00000255078.3:p.Gly98MetfsTer7
ENST00000539224.1:c.292_303delinsATGCT	ENSP00000440465.1:p.Gly98MetfsTer7
ENST00000544541.1:c.*32_*43delinsATGCT	ENSP00000443343.1:n.*32_*43delinsATGCT
ENST00000545146.1:c.*162_*173delinsATGCT	ENSP00000456366.1:n.*162_*173delinsATGCT
NM_002180.2:c.292_303delinsATGCT , LRG_250t1:c.292_303delinsATGCT	NP_002171.2:p.Gly98MetfsTer7
XM_005273974.2:c.-720_-709delinsATGCT	XP_005274031.1:n.-720_-709delinsATGCT
XM_005273976.1:c.292_303delinsATGCT	XP_005274033.1:p.Gly98MetfsTer7
XR_247198.1:n.394_405delinsATGCT
XR_949903.1:n.394_405delinsATGCT
XM_005273976.2:c.292_303delinsATGCT	XP_005274033.1:p.Gly98MetfsTer7
XM_017017669.2:c.-622_-611delinsATGCT	XP_016873158.1:n.-622_-611delinsATGCT
XM_017017671.2:c.292_303delinsATGCT	XP_016873160.1:p.Gly98MetfsTer7
XR_949903.3:n.390_401delinsATGCT
NM_002180.3:c.292_303delinsATGCT MANE Select	NP_002171.2:p.Gly98MetfsTer7