Canonical Allele Identifier: CA2614745815

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914946-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914949del , CM000673.2:g.68914949del	GRCh38
NC_000011.9:g.68682417del , CM000673.1:g.68682417del	GRCh37
NC_000011.8:g.68438993del	NCBI36
NG_007976.1:g.16099del , LRG_250:g.16099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.838del MANE Select	ENSP00000255078.4:p.Leu280TrpfsTer5
ENST00000539224.2:c.967del
ENST00000674955.1:c.838del	ENSP00000502463.1:p.Leu280TrpfsTer5
ENST00000675118.1:c.185del
ENST00000675119.1:c.127del	ENSP00000501861.1:p.Leu43TrpfsTer5
ENST00000675305.1:c.127del	ENSP00000502365.1:p.Leu43TrpfsTer5
ENST00000675464.1:c.127del	ENSP00000502650.1:p.Leu43TrpfsTer5
ENST00000675615.1:c.838del	ENSP00000502413.1:p.Leu280TrpfsTer5
ENST00000675683.1:c.225del
ENST00000676173.1:n.882del
ENST00000676228.1:c.*161del	ENSP00000502375.1:n.*161del
ENST00000676239.1:n.152del
ENST00000255078.7:c.838del	ENSP00000255078.3:p.Leu280TrpfsTer5
NM_002180.2:c.838del , LRG_250t1:c.838del	NP_002171.2:p.Leu280TrpfsTer5
XM_005273974.2:c.-174del	XP_005274031.1:n.-174del
XM_005273976.1:c.838del	XP_005274033.1:p.Leu280TrpfsTer5
XR_247198.1:n.940del
XR_949903.1:n.940del
XM_005273976.2:c.838del	XP_005274033.1:p.Leu280TrpfsTer5
XM_017017669.2:c.-174del	XP_016873158.1:n.-174del
XM_017017670.2:c.-174del	XP_016873159.1:n.-174del
XM_017017671.2:c.838del	XP_016873160.1:p.Leu280TrpfsTer5
XR_949903.3:n.936del
NM_002180.3:c.838del MANE Select	NP_002171.2:p.Leu280TrpfsTer5