Canonical Allele Identifier: CA2614746255

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68908294-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908295del , CM000673.2:g.68908295del	GRCh38
NC_000011.9:g.68675763del , CM000673.1:g.68675763del	GRCh37
NC_000011.8:g.68432339del	NCBI36
NG_007976.1:g.9445del , LRG_250:g.9445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.407del MANE Select	ENSP00000255078.4:p.Leu136ArgfsTer2
ENST00000539224.2:c.370del
ENST00000674583.1:c.370del
ENST00000674597.1:c.218del
ENST00000674955.1:c.407del	ENSP00000502463.1:p.Leu136ArgfsTer2
ENST00000675142.1:n.370del
ENST00000675469.1:c.283del
ENST00000675615.1:c.407del	ENSP00000502413.1:p.Leu136ArgfsTer2
ENST00000675674.1:n.370del
ENST00000675873.1:c.370del
ENST00000676173.1:n.451del
ENST00000676228.1:c.407del	ENSP00000502375.1:p.Leu136ArgfsTer2
ENST00000255078.7:c.407del	ENSP00000255078.3:p.Leu136ArgfsTer2
ENST00000539224.1:c.407del	ENSP00000440465.1:p.Leu136ArgfsTer2
ENST00000544541.1:c.*147del	ENSP00000443343.1:n.*147del
NM_002180.2:c.407del , LRG_250t1:c.407del	NP_002171.2:p.Leu136ArgfsTer2
XM_005273974.2:c.-605del	XP_005274031.1:n.-605del
XM_005273976.1:c.407del	XP_005274033.1:p.Leu136ArgfsTer2
XR_247198.1:n.509del
XR_949903.1:n.509del
XM_005273976.2:c.407del	XP_005274033.1:p.Leu136ArgfsTer2
XM_017017669.2:c.-507del	XP_016873158.1:n.-507del
XM_017017671.2:c.407del	XP_016873160.1:p.Leu136ArgfsTer2
XR_949903.3:n.505del
NM_002180.3:c.407del MANE Select	NP_002171.2:p.Leu136ArgfsTer2