Canonical Allele Identifier: CA6153668

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs770864295
• ExAC: 11:68701346 TGGA / T
• gnomAD v2: 11-68701346-TGGA-T
• gnomAD v4: 11-68933878-TGGA-T
• MyVariant Identifiers: chr11:g.68701347_68701349del (hg19) ; chr11:g.68933879_68933881del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68933888_68933890del , CM000673.2:g.68933888_68933890del	GRCh38
NC_000011.9:g.68701356_68701358del , CM000673.1:g.68701356_68701358del	GRCh37
NC_000011.8:g.68457932_68457934del	NCBI36
NG_007976.1:g.35038_35040del , LRG_250:g.35038_35040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1512_1514del MANE Select	ENSP00000255078.4:p.Glu504del
ENST00000674955.1:c.*229_*231del	ENSP00000502463.1:n.*229_*231del
ENST00000675118.1:c.1000_1002del
ENST00000675205.1:n.183+407_183+409del
ENST00000675615.1:c.1512_1514del	ENSP00000502413.1:p.Glu504del
ENST00000675648.1:n.887_889del
ENST00000675997.1:n.113-576_113-574del
ENST00000676173.1:n.2257_2259del
ENST00000676228.1:c.*835_*837del	ENSP00000502375.1:n.*835_*837del
ENST00000255078.7:c.1512_1514del	ENSP00000255078.3:p.Glu504del
ENST00000537458.5:n.629_631del
ENST00000539064.5:n.1271_1273del
ENST00000541229.5:n.207_209del
ENST00000543739.5:n.629_631del
NM_002180.2:c.1512_1514del , LRG_250t1:c.1512_1514del	NP_002171.2:p.Glu504del
XM_005273974.2:c.501_503del	XP_005274031.1:p.Glu167del
XM_005273975.2:c.384_386del	XP_005274032.1:p.Glu128del
XM_011544994.1:c.279_281del	XP_011543296.1:p.Glu93del
XR_949903.1:n.1614_1616del
XM_005273975.3:c.384_386del	XP_005274032.1:p.Glu128del
XM_017017669.2:c.501_503del	XP_016873158.1:p.Glu167del
XM_017017670.2:c.501_503del	XP_016873159.1:p.Glu167del
XM_017017671.2:c.1512_1514del	XP_016873160.1:p.Glu504del
XR_949903.3:n.1610_1612del
NM_002180.3:c.1512_1514del MANE Select	NP_002171.2:p.Glu504del