Canonical Allele Identifier: CA2614749241

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936836-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936840del , CM000673.2:g.68936840del	GRCh38
NC_000011.9:g.68704308del , CM000673.1:g.68704308del	GRCh37
NC_000011.8:g.68460884del	NCBI36
NG_007976.1:g.37990del , LRG_250:g.37990del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2360del MANE Select	ENSP00000255078.4:p.Pro787ArgfsTer?
ENST00000674675.1:c.587+17del
ENST00000674878.1:c.547+57del
ENST00000674955.1:c.*1077del	ENSP00000502463.1:n.*1077del
ENST00000675118.1:c.1848del
ENST00000675389.1:n.635del
ENST00000675615.1:c.2360del	ENSP00000502413.1:p.Pro787ArgfsTer?
ENST00000675648.1:n.1735del
ENST00000675916.1:c.604del
ENST00000676173.1:n.3105del
ENST00000676182.1:c.791del
ENST00000676228.1:c.*1683del	ENSP00000502375.1:n.*1683del
ENST00000255078.7:c.2360del	ENSP00000255078.3:p.Pro787ArgfsTer?
ENST00000539064.5:n.2119del
ENST00000543739.5:n.1353del
NM_002180.2:c.2360del , LRG_250t1:c.2360del	NP_002171.2:p.Pro787ArgfsTer?
XM_005273974.2:c.1349del	XP_005274031.1:p.Pro450ArgfsTer?
XM_005273975.2:c.1232del	XP_005274032.1:p.Pro411ArgfsTer?
XM_011544994.1:c.1127del	XP_011543296.1:p.Pro376ArgfsTer?
XR_949903.1:n.2462del
XM_005273975.3:c.1232del	XP_005274032.1:p.Pro411ArgfsTer?
XM_017017669.2:c.1349del	XP_016873158.1:p.Pro450ArgfsTer?
XM_017017670.2:c.1349del	XP_016873159.1:p.Pro450ArgfsTer?
XR_949903.3:n.2458del
NM_002180.3:c.2360del MANE Select	NP_002171.2:p.Pro787ArgfsTer?