Canonical Allele Identifier: CA2497321212
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1859397669

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68933474del , CM000673.2:g.68933474del GRCh38
NC_000011.9:g.68700942del , CM000673.1:g.68700942del GRCh37
NC_000011.8:g.68457518del NCBI36
NG_007976.1:g.34624del , LRG_250:g.34624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1411del MANE Select ENSP00000255078.4:p.Leu471SerfsTer2
ENST00000536803.2:n.322del
ENST00000674955.1:c.*128del ENSP00000502463.1:n.*128del
ENST00000675118.1:c.899del
ENST00000675205.1:n.176del
ENST00000675310.1:n.548del
ENST00000675615.1:c.1411del ENSP00000502413.1:p.Leu471SerfsTer2
ENST00000675648.1:n.786del
ENST00000675997.1:n.113-990del
ENST00000676149.1:n.485del
ENST00000676173.1:n.2156del
ENST00000676228.1:c.*734del ENSP00000502375.1:n.*734del
ENST00000255078.7:c.1411del ENSP00000255078.3:p.Leu471SerfsTer2
ENST00000537458.5:n.528del
ENST00000539064.5:n.1170del
ENST00000543739.5:n.528del
NM_002180.2:c.1411del , LRG_250t1:c.1411del NP_002171.2:p.Leu471SerfsTer2
XM_005273974.2:c.400del XP_005274031.1:p.Leu134SerfsTer2
XM_005273975.2:c.283del XP_005274032.1:p.Leu95SerfsTer2
XM_011544994.1:c.178del XP_011543296.1:p.Leu60SerfsTer2
XR_949903.1:n.1513del
XM_005273975.3:c.283del XP_005274032.1:p.Leu95SerfsTer2
XM_017017669.2:c.400del XP_016873158.1:p.Leu134SerfsTer2
XM_017017670.2:c.400del XP_016873159.1:p.Leu134SerfsTer2
XM_017017671.2:c.1411del XP_016873160.1:p.Leu471SerfsTer2
XR_949903.3:n.1509del
NM_002180.3:c.1411del MANE Select NP_002171.2:p.Leu471SerfsTer2