Canonical Allele Identifier: CA915948800

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 666974
• ClinVar RCV Id: RCV000825531
• dbSNP Id: rs1594427410

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914840del , CM000673.2:g.68914840del	GRCh38
NC_000011.9:g.68682308del , CM000673.1:g.68682308del	GRCh37
NC_000011.8:g.68438884del	NCBI36
NG_007976.1:g.15990del , LRG_250:g.15990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.729del MANE Select	ENSP00000255078.4:p.Ser244ProfsTer?
ENST00000539224.2:c.858del
ENST00000674955.1:c.729del	ENSP00000502463.1:p.Ser244ProfsTer?
ENST00000675118.1:c.76del
ENST00000675119.1:c.18del	ENSP00000501861.1:p.Ser7ProfsTer?
ENST00000675305.1:c.18del	ENSP00000502365.1:p.Ser7ProfsTer?
ENST00000675464.1:c.18del	ENSP00000502650.1:p.Ser7ProfsTer?
ENST00000675615.1:c.729del	ENSP00000502413.1:p.Ser244ProfsTer?
ENST00000675683.1:c.116del
ENST00000676173.1:n.773del
ENST00000676228.1:c.*52del	ENSP00000502375.1:n.*52del
ENST00000676239.1:n.43del
ENST00000255078.7:c.729del	ENSP00000255078.3:p.Ser244ProfsTer?
ENST00000539224.1:c.*52del	ENSP00000440465.1:n.*52del
NM_002180.2:c.729del , LRG_250t1:c.729del	NP_002171.2:p.Ser244ProfsTer?
XM_005273974.2:c.-283del	XP_005274031.1:n.-283del
XM_005273976.1:c.729del	XP_005274033.1:p.Ser244ProfsTer?
XR_247198.1:n.831del
XR_949903.1:n.831del
XM_005273976.2:c.729del	XP_005274033.1:p.Ser244ProfsTer?
XM_017017669.2:c.-283del	XP_016873158.1:n.-283del
XM_017017670.2:c.-283del	XP_016873159.1:n.-283del
XM_017017671.2:c.729del	XP_016873160.1:p.Ser244ProfsTer?
XR_949903.3:n.827del
NM_002180.3:c.729del MANE Select	NP_002171.2:p.Ser244ProfsTer?