Canonical Allele Identifier: CA679627091
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1247102426

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917755del , CM000673.2:g.68917755del GRCh38
NC_000011.9:g.68685223del , CM000673.1:g.68685223del GRCh37
NC_000011.8:g.68441799del NCBI36
NG_007976.1:g.18905del , LRG_250:g.18905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.932del MANE Select ENSP00000255078.4:p.Gln311ArgfsTer16
ENST00000674745.1:c.20del ENSP00000502738.1:p.Gln7ArgfsTer16
ENST00000674775.1:n.20del
ENST00000674955.1:c.932del ENSP00000502463.1:p.Gln311ArgfsTer16
ENST00000675118.1:c.420del
ENST00000675119.1:c.359del ENSP00000501861.1:n.359del
ENST00000675305.1:c.252del ENSP00000502365.1:n.252del
ENST00000675464.1:c.215del ENSP00000502650.1:p.Gln72ArgfsTer16
ENST00000675493.1:n.20del
ENST00000675615.1:c.932del ENSP00000502413.1:p.Gln311ArgfsTer16
ENST00000675648.1:n.307del
ENST00000675683.1:c.319del
ENST00000675684.1:c.20del ENSP00000502192.1:p.Gln7ArgfsTer16
ENST00000676173.1:n.976del
ENST00000676228.1:c.*255del ENSP00000502375.1:n.*255del
ENST00000255078.7:c.932del ENSP00000255078.3:p.Gln311ArgfsTer16
NM_002180.2:c.932del , LRG_250t1:c.932del NP_002171.2:p.Gln311ArgfsTer16
XM_005273974.2:c.-80del XP_005274031.1:n.-80del
XM_005273976.1:c.932del XP_005274033.1:p.Gln311ArgfsTer16
XR_247198.1:n.1034del
XR_949903.1:n.1034del
XM_005273976.2:c.932del XP_005274033.1:p.Gln311ArgfsTer16
XM_017017669.2:c.-80del XP_016873158.1:n.-80del
XM_017017670.2:c.-80del XP_016873159.1:n.-80del
XM_017017671.2:c.932del XP_016873160.1:p.Gln311ArgfsTer16
XR_949903.3:n.1030del
NM_002180.3:c.932del MANE Select NP_002171.2:p.Gln311ArgfsTer16