Canonical Allele Identifier: CA6153277

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2635455
• ClinVar RCV Id: RCV003778310 ; RCV004552598
• dbSNP Id: rs767630646
• ExAC: 11:68675762 CTG / C
• gnomAD v2: 11-68675762-CTG-C
• gnomAD v4: 11-68908294-CTG-C
• MyVariant Identifiers: chr11:g.68675763_68675764del (hg19) ; chr11:g.68908295_68908296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68908296_68908297del , CM000673.2:g.68908296_68908297del	GRCh38
NC_000011.9:g.68675764_68675765del , CM000673.1:g.68675764_68675765del	GRCh37
NC_000011.8:g.68432340_68432341del	NCBI36
NG_007976.1:g.9446_9447del , LRG_250:g.9446_9447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.408_409del MANE Select	ENSP00000255078.4:p.Leu137LysfsTer5
ENST00000539224.2:c.371_372del
ENST00000674583.1:c.371_372del
ENST00000674597.1:c.219_220del
ENST00000674955.1:c.408_409del	ENSP00000502463.1:p.Leu137LysfsTer5
ENST00000675142.1:n.371_372del
ENST00000675469.1:c.284_285del
ENST00000675615.1:c.408_409del	ENSP00000502413.1:p.Leu137LysfsTer5
ENST00000675674.1:n.371_372del
ENST00000675873.1:c.371_372del
ENST00000676173.1:n.452_453del
ENST00000676228.1:c.408_409del	ENSP00000502375.1:p.Leu137LysfsTer5
ENST00000255078.7:c.408_409del	ENSP00000255078.3:p.Leu137LysfsTer5
ENST00000539224.1:c.408_409del	ENSP00000440465.1:p.Leu137LysfsTer5
ENST00000544541.1:c.*148_*149del	ENSP00000443343.1:n.*148_*149del
NM_002180.2:c.408_409del , LRG_250t1:c.408_409del	NP_002171.2:p.Leu137LysfsTer5
XM_005273974.2:c.-604_-603del	XP_005274031.1:n.-604_-603del
XM_005273976.1:c.408_409del	XP_005274033.1:p.Leu137LysfsTer5
XR_247198.1:n.510_511del
XR_949903.1:n.510_511del
XM_005273976.2:c.408_409del	XP_005274033.1:p.Leu137LysfsTer5
XM_017017669.2:c.-506_-505del	XP_016873158.1:n.-506_-505del
XM_017017671.2:c.408_409del	XP_016873160.1:p.Leu137LysfsTer5
XR_949903.3:n.506_507del
NM_002180.3:c.408_409del MANE Select	NP_002171.2:p.Leu137LysfsTer5