Canonical Allele Identifier: CA2497321230
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1859550919

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936761_68936762insG , CM000673.2:g.68936761_68936762insG GRCh38
NC_000011.9:g.68704229_68704230insG , CM000673.1:g.68704229_68704230insG GRCh37
NC_000011.8:g.68460805_68460806insG NCBI36
NG_007976.1:g.37911_37912insG , LRG_250:g.37911_37912insG

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2281_2282insG MANE Select ENSP00000255078.4:p.Ile761SerfsTer?
ENST00000674675.1:c.525_526insG
ENST00000674878.1:c.525_526insG
ENST00000674955.1:c.*998_*999insG ENSP00000502463.1:n.*998_*999insG
ENST00000675118.1:c.1769_1770insG
ENST00000675389.1:n.556_557insG
ENST00000675615.1:c.2281_2282insG ENSP00000502413.1:p.Ile761SerfsTer?
ENST00000675648.1:n.1656_1657insG
ENST00000675916.1:c.525_526insG
ENST00000676173.1:n.3026_3027insG
ENST00000676182.1:c.712_713insG
ENST00000676228.1:c.*1604_*1605insG ENSP00000502375.1:n.*1604_*1605insG
ENST00000255078.7:c.2281_2282insG ENSP00000255078.3:p.Ile761SerfsTer?
ENST00000539064.5:n.2040_2041insG
ENST00000543739.5:n.1274_1275insG
NM_002180.2:c.2281_2282insG , LRG_250t1:c.2281_2282insG NP_002171.2:p.Ile761SerfsTer?
XM_005273974.2:c.1270_1271insG XP_005274031.1:p.Ile424SerfsTer?
XM_005273975.2:c.1153_1154insG XP_005274032.1:p.Ile385SerfsTer?
XM_011544994.1:c.1048_1049insG XP_011543296.1:p.Ile350SerfsTer?
XR_949903.1:n.2383_2384insG
XM_005273975.3:c.1153_1154insG XP_005274032.1:p.Ile385SerfsTer?
XM_017017669.2:c.1270_1271insG XP_016873158.1:p.Ile424SerfsTer?
XM_017017670.2:c.1270_1271insG XP_016873159.1:p.Ile424SerfsTer?
XR_949903.3:n.2379_2380insG
NM_002180.3:c.2281_2282insG MANE Select NP_002171.2:p.Ile761SerfsTer?