Canonical Allele Identifier: CA2614745814

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68914889-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914890del , CM000673.2:g.68914890del	GRCh38
NC_000011.9:g.68682358del , CM000673.1:g.68682358del	GRCh37
NC_000011.8:g.68438934del	NCBI36
NG_007976.1:g.16040del , LRG_250:g.16040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.779del MANE Select	ENSP00000255078.4:p.Gln260ArgfsTer25
ENST00000539224.2:c.908del
ENST00000674955.1:c.779del	ENSP00000502463.1:p.Gln260ArgfsTer25
ENST00000675118.1:c.126del
ENST00000675119.1:c.68del	ENSP00000501861.1:p.Gln23ArgfsTer25
ENST00000675305.1:c.68del	ENSP00000502365.1:p.Gln23ArgfsTer25
ENST00000675464.1:c.68del	ENSP00000502650.1:p.Gln23ArgfsTer25
ENST00000675615.1:c.779del	ENSP00000502413.1:p.Gln260ArgfsTer25
ENST00000675683.1:c.166del
ENST00000676173.1:n.823del
ENST00000676228.1:c.*102del	ENSP00000502375.1:n.*102del
ENST00000676239.1:n.93del
ENST00000255078.7:c.779del	ENSP00000255078.3:p.Gln260ArgfsTer25
ENST00000539224.1:c.*102del	ENSP00000440465.1:n.*102del
NM_002180.2:c.779del , LRG_250t1:c.779del	NP_002171.2:p.Gln260ArgfsTer25
XM_005273974.2:c.-233del	XP_005274031.1:n.-233del
XM_005273976.1:c.779del	XP_005274033.1:p.Gln260ArgfsTer25
XR_247198.1:n.881del
XR_949903.1:n.881del
XM_005273976.2:c.779del	XP_005274033.1:p.Gln260ArgfsTer25
XM_017017669.2:c.-233del	XP_016873158.1:n.-233del
XM_017017670.2:c.-233del	XP_016873159.1:n.-233del
XM_017017671.2:c.779del	XP_016873160.1:p.Gln260ArgfsTer25
XR_949903.3:n.877del
NM_002180.3:c.779del MANE Select	NP_002171.2:p.Gln260ArgfsTer25