Canonical Allele Identifier: CA599989367

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs1470434109
• gnomAD v2: 11-68682300-TGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGA-T
• gnomAD v4: 11-68914832-TGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGA-T
• MyVariant Identifiers: chr11:g.68682301_68682337del (hg19) ; chr11:g.68914833_68914869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68914838_68914874del , CM000673.2:g.68914838_68914874del	GRCh38
NC_000011.9:g.68682306_68682342del , CM000673.1:g.68682306_68682342del	GRCh37
NC_000011.8:g.68438882_68438918del	NCBI36
NG_007976.1:g.15988_16024del , LRG_250:g.15988_16024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.727_763del MANE Select	ENSP00000255078.4:p.Pro243TrpfsTer30
ENST00000539224.2:c.856_892del
ENST00000674955.1:c.727_763del	ENSP00000502463.1:p.Pro243TrpfsTer30
ENST00000675118.1:c.74_110del
ENST00000675119.1:c.16_52del	ENSP00000501861.1:p.Pro6TrpfsTer30
ENST00000675305.1:c.16_52del	ENSP00000502365.1:p.Pro6TrpfsTer30
ENST00000675464.1:c.16_52del	ENSP00000502650.1:p.Pro6TrpfsTer30
ENST00000675615.1:c.727_763del	ENSP00000502413.1:p.Pro243TrpfsTer30
ENST00000675683.1:c.114_150del
ENST00000676173.1:n.771_807del
ENST00000676228.1:c.*50_*86del	ENSP00000502375.1:n.*50_*86del
ENST00000676239.1:n.41_77del
ENST00000255078.7:c.727_763del	ENSP00000255078.3:p.Pro243TrpfsTer30
ENST00000539224.1:c.*50_*86del	ENSP00000440465.1:n.*50_*86del
NM_002180.2:c.727_763del , LRG_250t1:c.727_763del	NP_002171.2:p.Pro243TrpfsTer30
XM_005273974.2:c.-285_-249del	XP_005274031.1:n.-285_-249del
XM_005273976.1:c.727_763del	XP_005274033.1:p.Pro243TrpfsTer30
XR_247198.1:n.829_865del
XR_949903.1:n.829_865del
XM_005273976.2:c.727_763del	XP_005274033.1:p.Pro243TrpfsTer30
XM_017017669.2:c.-285_-249del	XP_016873158.1:n.-285_-249del
XM_017017670.2:c.-285_-249del	XP_016873159.1:n.-285_-249del
XM_017017671.2:c.727_763del	XP_016873160.1:p.Pro243TrpfsTer30
XR_949903.3:n.825_861del
NM_002180.3:c.727_763del MANE Select	NP_002171.2:p.Pro243TrpfsTer30