Canonical Allele Identifier: CA2614749391

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68937048-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68937051del , CM000673.2:g.68937051del	GRCh38
NC_000011.9:g.68704519del , CM000673.1:g.68704519del	GRCh37
NC_000011.8:g.68461095del	NCBI36
NG_007976.1:g.38201del , LRG_250:g.38201del

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2571del MANE Select	ENSP00000255078.4:p.Gln858SerfsTer?
ENST00000674675.1:c.716del
ENST00000674878.1:c.676del
ENST00000675118.1:c.2059del
ENST00000675389.1:n.846del
ENST00000675615.1:c.2571del	ENSP00000502413.1:p.Gln858SerfsTer?
ENST00000675648.1:n.1946del
ENST00000675916.1:c.815del
ENST00000676173.1:n.3316del
ENST00000676182.1:c.1002del
ENST00000676228.1:c.*1894del	ENSP00000502375.1:n.*1894del
ENST00000255078.7:c.2571del	ENSP00000255078.3:p.Gln858SerfsTer?
ENST00000539064.5:n.2330del
ENST00000543739.5:n.1564del
NM_002180.2:c.2571del , LRG_250t1:c.2571del	NP_002171.2:p.Gln858SerfsTer?
XM_005273974.2:c.1560del	XP_005274031.1:p.Gln521SerfsTer?
XM_005273975.2:c.1443del	XP_005274032.1:p.Gln482SerfsTer?
XM_011544994.1:c.1338del	XP_011543296.1:p.Gln447SerfsTer?
XR_949903.1:n.2673del
XM_005273975.3:c.1443del	XP_005274032.1:p.Gln482SerfsTer?
XM_017017669.2:c.1560del	XP_016873158.1:p.Gln521SerfsTer?
XM_017017670.2:c.1560del	XP_016873159.1:p.Gln521SerfsTer?
XR_949903.3:n.2669del
NM_002180.3:c.2571del MANE Select	NP_002171.2:p.Gln858SerfsTer?