Canonical Allele Identifier: CA600239939
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1566445831

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936215_68936218del , CM000673.2:g.68936215_68936218del GRCh38
NC_000011.9:g.68703683_68703686del , CM000673.1:g.68703683_68703686del GRCh37
NC_000011.8:g.68460259_68460262del NCBI36
NG_007976.1:g.37365_37368del , LRG_250:g.37365_37368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.1757-22_1757-19del MANE Select ENSP00000255078.4:n.1757-22_1757-19del
ENST00000674955.1:c.*474-22_*474-19del ENSP00000502463.1:n.*474-22_*474-19del
ENST00000675118.1:c.1245-22_1245-19del
ENST00000675389.1:n.32-22_32-19del
ENST00000675615.1:c.1757-22_1757-19del ENSP00000502413.1:n.1757-22_1757-19del
ENST00000675648.1:n.1132-22_1132-19del
ENST00000676173.1:n.2502-22_2502-19del
ENST00000676182.1:c.188-22_188-19del
ENST00000676228.1:c.*1080-22_*1080-19del ENSP00000502375.1:n.*1080-22_*1080-19del
ENST00000255078.7:c.1757-22_1757-19del ENSP00000255078.3:n.1757-22_1757-19del
ENST00000539064.5:n.1516-22_1516-19del
ENST00000541229.5:n.452-22_452-19del
ENST00000543739.5:n.750-22_750-19del
ENST00000545475.1:n.353-22_353-19del
NM_002180.2:c.1757-22_1757-19del , LRG_250t1:c.1757-22_1757-19del NP_002171.2:n.1757-22_1757-19del
XM_005273974.2:c.746-22_746-19del XP_005274031.1:n.746-22_746-19del
XM_005273975.2:c.629-22_629-19del XP_005274032.1:n.629-22_629-19del
XM_011544994.1:c.524-22_524-19del XP_011543296.1:n.524-22_524-19del
XR_949903.1:n.1859-22_1859-19del
XM_005273975.3:c.629-22_629-19del XP_005274032.1:n.629-22_629-19del
XM_017017669.2:c.746-22_746-19del XP_016873158.1:n.746-22_746-19del
XM_017017670.2:c.746-22_746-19del XP_016873159.1:n.746-22_746-19del
XR_949903.3:n.1855-22_1855-19del
NM_002180.3:c.1757-22_1757-19del MANE Select NP_002171.2:n.1757-22_1757-19del