Canonical Allele Identifier: CA2499221275

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 1070991
• ClinVar RCV Id: RCV001383330
• dbSNP Id: rs2154007211

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914874_68914878del , CM000673.2:g.68914874_68914878del	GRCh38
NC_000011.9:g.68682342_68682346del , CM000673.1:g.68682342_68682346del	GRCh37
NC_000011.8:g.68438918_68438922del	NCBI36
NG_007976.1:g.16024_16028del , LRG_250:g.16024_16028del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.763_767del MANE Select	ENSP00000255078.4:p.Leu255SerfsTer3
ENST00000539224.2:c.892_896del
ENST00000674955.1:c.763_767del	ENSP00000502463.1:p.Leu255SerfsTer3
ENST00000675118.1:c.110_114del
ENST00000675119.1:c.52_56del	ENSP00000501861.1:p.Leu18SerfsTer3
ENST00000675305.1:c.52_56del	ENSP00000502365.1:p.Leu18SerfsTer3
ENST00000675464.1:c.52_56del	ENSP00000502650.1:p.Leu18SerfsTer3
ENST00000675615.1:c.763_767del	ENSP00000502413.1:p.Leu255SerfsTer3
ENST00000675683.1:c.150_154del
ENST00000676173.1:n.807_811del
ENST00000676228.1:c.*86_*90del	ENSP00000502375.1:n.*86_*90del
ENST00000676239.1:n.77_81del
ENST00000255078.7:c.763_767del	ENSP00000255078.3:p.Leu255SerfsTer3
ENST00000539224.1:c.*86_*90del	ENSP00000440465.1:n.*86_*90del
NM_002180.2:c.763_767del , LRG_250t1:c.763_767del	NP_002171.2:p.Leu255SerfsTer3
XM_005273974.2:c.-249_-245del	XP_005274031.1:n.-249_-245del
XM_005273976.1:c.763_767del	XP_005274033.1:p.Leu255SerfsTer3
XR_247198.1:n.865_869del
XR_949903.1:n.865_869del
XM_005273976.2:c.763_767del	XP_005274033.1:p.Leu255SerfsTer3
XM_017017669.2:c.-249_-245del	XP_016873158.1:n.-249_-245del
XM_017017670.2:c.-249_-245del	XP_016873159.1:n.-249_-245del
XM_017017671.2:c.763_767del	XP_016873160.1:p.Leu255SerfsTer3
XR_949903.3:n.861_865del
NM_002180.3:c.763_767del MANE Select	NP_002171.2:p.Leu255SerfsTer3