Canonical Allele Identifier: CA2614749632

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68933855-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933856del , CM000673.2:g.68933856del	GRCh38
NC_000011.9:g.68701324del , CM000673.1:g.68701324del	GRCh37
NC_000011.8:g.68457900del	NCBI36
NG_007976.1:g.35006del , LRG_250:g.35006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1480del MANE Select	ENSP00000255078.4:p.Ala494ProfsTer?
ENST00000674955.1:c.*197del	ENSP00000502463.1:n.*197del
ENST00000675118.1:c.968del
ENST00000675205.1:n.183+375del
ENST00000675615.1:c.1480del	ENSP00000502413.1:p.Ala494ProfsTer?
ENST00000675648.1:n.855del
ENST00000675997.1:n.113-608del
ENST00000676173.1:n.2225del
ENST00000676228.1:c.*803del	ENSP00000502375.1:n.*803del
ENST00000255078.7:c.1480del	ENSP00000255078.3:p.Ala494ProfsTer?
ENST00000537458.5:n.597del
ENST00000539064.5:n.1239del
ENST00000541229.5:n.175del
ENST00000543739.5:n.597del
NM_002180.2:c.1480del , LRG_250t1:c.1480del	NP_002171.2:p.Ala494ProfsTer?
XM_005273974.2:c.469del	XP_005274031.1:p.Ala157ProfsTer?
XM_005273975.2:c.352del	XP_005274032.1:p.Ala118ProfsTer?
XM_011544994.1:c.247del	XP_011543296.1:p.Ala83ProfsTer?
XR_949903.1:n.1582del
XM_005273975.3:c.352del	XP_005274032.1:p.Ala118ProfsTer?
XM_017017669.2:c.469del	XP_016873158.1:p.Ala157ProfsTer?
XM_017017670.2:c.469del	XP_016873159.1:p.Ala157ProfsTer?
XM_017017671.2:c.1480del	XP_016873160.1:p.Ala494ProfsTer?
XR_949903.3:n.1578del
NM_002180.3:c.1480del MANE Select	NP_002171.2:p.Ala494ProfsTer?