Canonical Allele Identifier: CA2497321229
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1859537651

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936572del , CM000673.2:g.68936572del GRCh38
NC_000011.9:g.68704040del , CM000673.1:g.68704040del GRCh37
NC_000011.8:g.68460616del NCBI36
NG_007976.1:g.37722del , LRG_250:g.37722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2092del MANE Select ENSP00000255078.4:p.Ala698LeufsTer?
ENST00000674675.1:c.336del
ENST00000674878.1:c.336del
ENST00000674955.1:c.*809del ENSP00000502463.1:n.*809del
ENST00000675118.1:c.1580del
ENST00000675389.1:n.367del
ENST00000675615.1:c.2092del ENSP00000502413.1:p.Ala698LeufsTer?
ENST00000675648.1:n.1467del
ENST00000675916.1:c.336del
ENST00000676173.1:n.2837del
ENST00000676182.1:c.523del
ENST00000676228.1:c.*1415del ENSP00000502375.1:n.*1415del
ENST00000255078.7:c.2092del ENSP00000255078.3:p.Ala698LeufsTer?
ENST00000539064.5:n.1851del
ENST00000543739.5:n.1085del
NM_002180.2:c.2092del , LRG_250t1:c.2092del NP_002171.2:p.Ala698LeufsTer?
XM_005273974.2:c.1081del XP_005274031.1:p.Ala361LeufsTer?
XM_005273975.2:c.964del XP_005274032.1:p.Ala322LeufsTer?
XM_011544994.1:c.859del XP_011543296.1:p.Ala287LeufsTer?
XR_949903.1:n.2194del
XM_005273975.3:c.964del XP_005274032.1:p.Ala322LeufsTer?
XM_017017669.2:c.1081del XP_016873158.1:p.Ala361LeufsTer?
XM_017017670.2:c.1081del XP_016873159.1:p.Ala361LeufsTer?
XR_949903.3:n.2190del
NM_002180.3:c.2092del MANE Select NP_002171.2:p.Ala698LeufsTer?