Canonical Allele Identifier: CA2580084765
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2033010
ClinVar RCV Id: RCV002881604

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908205_68908206insA , CM000673.2:g.68908205_68908206insA GRCh38
NC_000011.9:g.68675673_68675674insA , CM000673.1:g.68675673_68675674insA GRCh37
NC_000011.8:g.68432249_68432250insA NCBI36
NG_007976.1:g.9355_9356insA , LRG_250:g.9355_9356insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.317_318insA MANE Select ENSP00000255078.4:p.Thr107AspfsTer13
ENST00000539224.2:c.280_281insA
ENST00000674583.1:c.280_281insA
ENST00000674597.1:c.128_129insA
ENST00000674955.1:c.317_318insA ENSP00000502463.1:p.Thr107AspfsTer13
ENST00000675142.1:n.280_281insA
ENST00000675469.1:c.193_194insA
ENST00000675615.1:c.317_318insA ENSP00000502413.1:p.Thr107AspfsTer13
ENST00000675674.1:n.280_281insA
ENST00000675873.1:c.280_281insA
ENST00000676173.1:n.361_362insA
ENST00000676228.1:c.317_318insA ENSP00000502375.1:p.Thr107AspfsTer13
ENST00000255078.7:c.317_318insA ENSP00000255078.3:p.Thr107AspfsTer13
ENST00000539224.1:c.317_318insA ENSP00000440465.1:p.Thr107AspfsTer13
ENST00000544541.1:c.*57_*58insA ENSP00000443343.1:n.*57_*58insA
NM_002180.2:c.317_318insA , LRG_250t1:c.317_318insA NP_002171.2:p.Thr107AspfsTer13
XM_005273974.2:c.-695_-694insA XP_005274031.1:n.-695_-694insA
XM_005273976.1:c.317_318insA XP_005274033.1:p.Thr107AspfsTer13
XR_247198.1:n.419_420insA
XR_949903.1:n.419_420insA
XM_005273976.2:c.317_318insA XP_005274033.1:p.Thr107AspfsTer13
XM_017017669.2:c.-597_-596insA XP_016873158.1:n.-597_-596insA
XM_017017671.2:c.317_318insA XP_016873160.1:p.Thr107AspfsTer13
XR_949903.3:n.415_416insA
NM_002180.3:c.317_318insA MANE Select NP_002171.2:p.Thr107AspfsTer13