Canonical Allele Identifier: CA600239889
Gene: IGHMBP2 HGNC NCBI

Linked Data

dbSNP Id: rs1240924188

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908633_68908634insGA , CM000673.2:g.68908633_68908634insGA GRCh38
NC_000011.9:g.68676101_68676102insGA , CM000673.1:g.68676101_68676102insGA GRCh37
NC_000011.8:g.68432677_68432678insGA NCBI36
NG_007976.1:g.9783_9784insGA , LRG_250:g.9783_9784insGA

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.547+2_547+3insGA MANE Select ENSP00000255078.4:n.547+2_547+3insGA
ENST00000539224.2:c.510+2_510+3insGA
ENST00000674583.1:c.510+2_510+3insGA
ENST00000674955.1:c.547+2_547+3insGA ENSP00000502463.1:n.547+2_547+3insGA
ENST00000675142.1:n.510+2_510+3insGA
ENST00000675615.1:c.547+2_547+3insGA ENSP00000502413.1:n.547+2_547+3insGA
ENST00000675674.1:n.510+2_510+3insGA
ENST00000675683.1:c.98+2_98+3insGA
ENST00000675873.1:c.510+2_510+3insGA
ENST00000676173.1:n.591+2_591+3insGA
ENST00000676228.1:c.449+296_449+297insGA ENSP00000502375.1:n.449+296_449+297insGA
ENST00000255078.7:c.547+2_547+3insGA ENSP00000255078.3:n.547+2_547+3insGA
ENST00000539224.1:c.449+296_449+297insGA ENSP00000440465.1:n.449+296_449+297insGA
ENST00000544541.1:c.*287+2_*287+3insGA ENSP00000443343.1:n.*287+2_*287+3insGA
NM_002180.2:c.547+2_547+3insGA , LRG_250t1:c.547+2_547+3insGA NP_002171.2:n.547+2_547+3insGA
XM_005273974.2:c.-465+2_-465+3insGA XP_005274031.1:n.-465+2_-465+3insGA
XM_005273976.1:c.547+2_547+3insGA XP_005274033.1:n.547+2_547+3insGA
XR_247198.1:n.649+2_649+3insGA
XR_949903.1:n.649+2_649+3insGA
XM_005273976.2:c.547+2_547+3insGA XP_005274033.1:n.547+2_547+3insGA
XM_017017669.2:c.-465+296_-465+297insGA XP_016873158.1:n.-465+296_-465+297insGA
XM_017017671.2:c.547+2_547+3insGA XP_016873160.1:n.547+2_547+3insGA
XR_949903.3:n.645+2_645+3insGA
NM_002180.3:c.547+2_547+3insGA MANE Select NP_002171.2:n.547+2_547+3insGA