Canonical Allele Identifier: CA16042766
Gene: IGHMBP2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373749
dbSNP Id: rs1057518588

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68908632G>A , CM000673.2:g.68908632G>A GRCh38
NC_000011.9:g.68676100G>A , CM000673.1:g.68676100G>A GRCh37
NC_000011.8:g.68432676G>A NCBI36
NG_007976.1:g.9782G>A , LRG_250:g.9782G>A

Transcript Alleles

HGVS Amino-acid change
NM_002180.2:c.547+1G>A , LRG_250t1:c.547+1G>A NP_002171.2:p.=
XM_005273974.2:c.-465+1G>A XP_005274031.1:p.=
XM_005273976.1:c.547+1G>A XP_005274033.1:p.=
XR_247198.1:n.649+1G>A
XR_949903.1:n.649+1G>A
XM_005273976.2:c.547+1G>A
XM_017017669.2:c.-465+295G>A XP_016873158.1:p.=
XM_017017671.2:c.547+1G>A XP_016873160.1:p.=
XR_949903.3:n.645+1G>A
ENST00000255078.7:c.547+1G>A ENSP00000255078.3:p.=
ENST00000539224.1:c.449+295G>A ENSP00000440465.1:p.=
ENST00000544541.1:c.*287+1G>A ENSP00000443343.1:p.=