Canonical Allele Identifier: CA2614748822

Gene: IGHMBP2

Linked Data

• gnomAD v4: 11-68936593-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936594_68936595del , CM000673.2:g.68936594_68936595del	GRCh38
NC_000011.9:g.68704062_68704063del , CM000673.1:g.68704062_68704063del	GRCh37
NC_000011.8:g.68460638_68460639del	NCBI36
NG_007976.1:g.37744_37745del , LRG_250:g.37744_37745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2114_2115del MANE Select	ENSP00000255078.4:p.Glu705GlyfsTer?
ENST00000674675.1:c.358_359del
ENST00000674878.1:c.358_359del
ENST00000674955.1:c.*831_*832del	ENSP00000502463.1:n.*831_*832del
ENST00000675118.1:c.1602_1603del
ENST00000675389.1:n.389_390del
ENST00000675615.1:c.2114_2115del	ENSP00000502413.1:p.Glu705GlyfsTer?
ENST00000675648.1:n.1489_1490del
ENST00000675916.1:c.358_359del
ENST00000676173.1:n.2859_2860del
ENST00000676182.1:c.545_546del
ENST00000676228.1:c.*1437_*1438del	ENSP00000502375.1:n.*1437_*1438del
ENST00000255078.7:c.2114_2115del	ENSP00000255078.3:p.Glu705GlyfsTer?
ENST00000539064.5:n.1873_1874del
ENST00000543739.5:n.1107_1108del
NM_002180.2:c.2114_2115del , LRG_250t1:c.2114_2115del	NP_002171.2:p.Glu705GlyfsTer?
XM_005273974.2:c.1103_1104del	XP_005274031.1:p.Glu368GlyfsTer?
XM_005273975.2:c.986_987del	XP_005274032.1:p.Glu329GlyfsTer?
XM_011544994.1:c.881_882del	XP_011543296.1:p.Glu294GlyfsTer?
XR_949903.1:n.2216_2217del
XM_005273975.3:c.986_987del	XP_005274032.1:p.Glu329GlyfsTer?
XM_017017669.2:c.1103_1104del	XP_016873158.1:p.Glu368GlyfsTer?
XM_017017670.2:c.1103_1104del	XP_016873159.1:p.Glu368GlyfsTer?
XR_949903.3:n.2212_2213del
NM_002180.3:c.2114_2115del MANE Select	NP_002171.2:p.Glu705GlyfsTer?