Canonical Allele Identifier: CA600239855

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1480813006
• gnomAD v2: 11-68701109-GGT-G
• gnomAD v3: 11-68933641-GGT-G
• gnomAD v4: 11-68933641-GGT-G
• MyVariant Identifiers: chr11:g.68701110_68701111del (hg19) ; chr11:g.68933642_68933643del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933642_68933643del , CM000673.2:g.68933642_68933643del	GRCh38
NC_000011.9:g.68701110_68701111del , CM000673.1:g.68701110_68701111del	GRCh37
NC_000011.8:g.68457686_68457687del	NCBI36
NG_007976.1:g.34792_34793del , LRG_250:g.34792_34793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1419-153_1419-152del MANE Select	ENSP00000255078.4:n.1419-153_1419-152del
ENST00000674955.1:c.*136-153_*136-152del	ENSP00000502463.1:n.*136-153_*136-152del
ENST00000675118.1:c.907-153_907-152del
ENST00000675205.1:n.183+161_183+162del
ENST00000675615.1:c.1419-153_1419-152del	ENSP00000502413.1:n.1419-153_1419-152del
ENST00000675648.1:n.794-153_794-152del
ENST00000675997.1:n.113-822_113-821del
ENST00000676173.1:n.2164-153_2164-152del
ENST00000676228.1:c.*742-153_*742-152del	ENSP00000502375.1:n.*742-153_*742-152del
ENST00000255078.7:c.1419-153_1419-152del	ENSP00000255078.3:n.1419-153_1419-152del
ENST00000537458.5:n.536-153_536-152del
ENST00000539064.5:n.1178-153_1178-152del
ENST00000543739.5:n.536-153_536-152del
NM_002180.2:c.1419-153_1419-152del , LRG_250t1:c.1419-153_1419-152del	NP_002171.2:n.1419-153_1419-152del
XM_005273974.2:c.408-153_408-152del	XP_005274031.1:n.408-153_408-152del
XM_005273975.2:c.291-153_291-152del	XP_005274032.1:n.291-153_291-152del
XM_011544994.1:c.186-153_186-152del	XP_011543296.1:n.186-153_186-152del
XR_949903.1:n.1521-153_1521-152del
XM_005273975.3:c.291-153_291-152del	XP_005274032.1:n.291-153_291-152del
XM_017017669.2:c.408-153_408-152del	XP_016873158.1:n.408-153_408-152del
XM_017017670.2:c.408-153_408-152del	XP_016873159.1:n.408-153_408-152del
XM_017017671.2:c.1419-153_1419-152del	XP_016873160.1:n.1419-153_1419-152del
XR_949903.3:n.1517-153_1517-152del
NM_002180.3:c.1419-153_1419-152del MANE Select	NP_002171.2:n.1419-153_1419-152del