Canonical Allele Identifier: CA679634298
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1444589955

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68934072_68934083del , CM000673.2:g.68934072_68934083del GRCh38
NC_000011.9:g.68701540_68701551del , CM000673.1:g.68701540_68701551del GRCh37
NC_000011.8:g.68458116_68458127del NCBI36
NG_007976.1:g.35222_35233del , LRG_250:g.35222_35233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1537+159_1537+170del MANE Select ENSP00000255078.4:n.1537+159_1537+170del
ENST00000674955.1:c.*254+159_*254+170del ENSP00000502463.1:n.*254+159_*254+170del
ENST00000675118.1:c.1025+159_1025+170del
ENST00000675205.1:n.184-392_184-381del
ENST00000675615.1:c.1537+159_1537+170del ENSP00000502413.1:n.1537+159_1537+170del
ENST00000675648.1:n.912+159_912+170del
ENST00000675997.1:n.113-392_113-381del
ENST00000676173.1:n.2282+159_2282+170del
ENST00000676228.1:c.*860+159_*860+170del ENSP00000502375.1:n.*860+159_*860+170del
ENST00000255078.7:c.1537+159_1537+170del ENSP00000255078.3:n.1537+159_1537+170del
ENST00000539064.5:n.1296+159_1296+170del
ENST00000541229.5:n.232+159_232+170del
ENST00000543739.5:n.654+159_654+170del
NM_002180.2:c.1537+159_1537+170del , LRG_250t1:c.1537+159_1537+170del NP_002171.2:n.1537+159_1537+170del
XM_005273974.2:c.526+159_526+170del XP_005274031.1:n.526+159_526+170del
XM_005273975.2:c.409+159_409+170del XP_005274032.1:n.409+159_409+170del
XM_011544994.1:c.304+159_304+170del XP_011543296.1:n.304+159_304+170del
XR_949903.1:n.1639+159_1639+170del
XM_005273975.3:c.409+159_409+170del XP_005274032.1:n.409+159_409+170del
XM_017017669.2:c.526+159_526+170del XP_016873158.1:n.526+159_526+170del
XM_017017670.2:c.526+159_526+170del XP_016873159.1:n.526+159_526+170del
XM_017017671.2:c.1537+159_1537+170del XP_016873160.1:n.1537+159_1537+170del
XR_949903.3:n.1635+159_1635+170del
NM_002180.3:c.1537+159_1537+170del MANE Select NP_002171.2:n.1537+159_1537+170del