Canonical Allele Identifier: CA2792557511
Gene: IGHMBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68934022_68934024del , CM000673.2:g.68934022_68934024del GRCh38
NC_000011.9:g.68701490_68701492del , CM000673.1:g.68701490_68701492del GRCh37
NC_000011.8:g.68458066_68458068del NCBI36
NG_007976.1:g.35172_35174del , LRG_250:g.35172_35174del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1537+109_1537+111del MANE Select ENSP00000255078.4:n.1537+109_1537+111del
ENST00000674955.1:c.*254+109_*254+111del ENSP00000502463.1:n.*254+109_*254+111del
ENST00000675118.1:c.1025+109_1025+111del
ENST00000675205.1:n.184-442_184-440del
ENST00000675615.1:c.1537+109_1537+111del ENSP00000502413.1:n.1537+109_1537+111del
ENST00000675648.1:n.912+109_912+111del
ENST00000675997.1:n.113-442_113-440del
ENST00000676173.1:n.2282+109_2282+111del
ENST00000676228.1:c.*860+109_*860+111del ENSP00000502375.1:n.*860+109_*860+111del
ENST00000255078.7:c.1537+109_1537+111del ENSP00000255078.3:n.1537+109_1537+111del
ENST00000537458.5:n.763_765del
ENST00000539064.5:n.1296+109_1296+111del
ENST00000541229.5:n.232+109_232+111del
ENST00000543739.5:n.654+109_654+111del
NM_002180.2:c.1537+109_1537+111del , LRG_250t1:c.1537+109_1537+111del NP_002171.2:n.1537+109_1537+111del
XM_005273974.2:c.526+109_526+111del XP_005274031.1:n.526+109_526+111del
XM_005273975.2:c.409+109_409+111del XP_005274032.1:n.409+109_409+111del
XM_011544994.1:c.304+109_304+111del XP_011543296.1:n.304+109_304+111del
XR_949903.1:n.1639+109_1639+111del
XM_005273975.3:c.409+109_409+111del XP_005274032.1:n.409+109_409+111del
XM_017017669.2:c.526+109_526+111del XP_016873158.1:n.526+109_526+111del
XM_017017670.2:c.526+109_526+111del XP_016873159.1:n.526+109_526+111del
XM_017017671.2:c.1537+109_1537+111del XP_016873160.1:n.1537+109_1537+111del
XR_949903.3:n.1635+109_1635+111del
NM_002180.3:c.1537+109_1537+111del MANE Select NP_002171.2:n.1537+109_1537+111del