Canonical Allele Identifier: CA679625338

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1188738969
• gnomAD v3: 11-68915047-TGTGGGGC-T
• gnomAD v4: 11-68915047-TGTGGGGC-T
• MyVariant Identifiers: chr11:g.68682516_68682522del (hg19) ; chr11:g.68915048_68915054del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68915053_68915059del , CM000673.2:g.68915053_68915059del	GRCh38
NC_000011.9:g.68682521_68682527del , CM000673.1:g.68682521_68682527del	GRCh37
NC_000011.8:g.68439097_68439103del	NCBI36
NG_007976.1:g.16203_16209del , LRG_250:g.16203_16209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.912+30_912+36del MANE Select	ENSP00000255078.4:n.912+30_912+36del
ENST00000539224.2:c.1041+30_1041+36del
ENST00000674955.1:c.912+30_912+36del	ENSP00000502463.1:n.912+30_912+36del
ENST00000675118.1:c.259+30_259+36del
ENST00000675119.1:c.201+30_201+36del	ENSP00000501861.1:n.201+30_201+36del
ENST00000675305.1:c.201+30_201+36del	ENSP00000502365.1:n.201+30_201+36del
ENST00000675464.1:c.195+36_195+42del	ENSP00000502650.1:n.195+36_195+42del
ENST00000675615.1:c.912+30_912+36del	ENSP00000502413.1:n.912+30_912+36del
ENST00000675683.1:c.299+30_299+36del
ENST00000676173.1:n.956+30_956+36del
ENST00000676228.1:c.*235+30_*235+36del	ENSP00000502375.1:n.*235+30_*235+36del
ENST00000255078.7:c.912+30_912+36del	ENSP00000255078.3:n.912+30_912+36del
NM_002180.2:c.912+30_912+36del , LRG_250t1:c.912+30_912+36del	NP_002171.2:n.912+30_912+36del
XM_005273974.2:c.-100+30_-100+36del	XP_005274031.1:n.-100+30_-100+36del
XM_005273976.1:c.912+30_912+36del	XP_005274033.1:n.912+30_912+36del
XR_247198.1:n.1014+30_1014+36del
XR_949903.1:n.1014+30_1014+36del
XM_005273976.2:c.912+30_912+36del	XP_005274033.1:n.912+30_912+36del
XM_017017669.2:c.-100+30_-100+36del	XP_016873158.1:n.-100+30_-100+36del
XM_017017670.2:c.-100+30_-100+36del	XP_016873159.1:n.-100+30_-100+36del
XM_017017671.2:c.912+30_912+36del	XP_016873160.1:n.912+30_912+36del
XR_949903.3:n.1010+30_1010+36del
NM_002180.3:c.912+30_912+36del MANE Select	NP_002171.2:n.912+30_912+36del