Canonical Allele Identifier: CA6153905
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 466590
dbSNP Id: rs751122806

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936878G>A , CM000673.2:g.68936878G>A GRCh38
NC_000011.9:g.68704346G>A , CM000673.1:g.68704346G>A GRCh37
NC_000011.8:g.68460922G>A NCBI36
NG_007976.1:g.38028G>A , LRG_250:g.38028G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2398G>A MANE Select ENSP00000255078.4:p.Gly800Ser
ENST00000674675.1:n.588-45G>A
ENST00000674878.1:n.548-45G>A
ENST00000675118.1:n.1886G>A
ENST00000675389.1:n.673G>A
ENST00000675615.1:c.2398G>A ENSP00000502413.1:p.Gly800Ser
ENST00000675648.1:n.1773G>A
ENST00000675916.1:n.642G>A
ENST00000676173.1:n.3143G>A
ENST00000676182.1:n.829G>A
ENST00000676228.1:c.*1721G>A ENSP00000502375.1:p.=
ENST00000255078.7:c.2398G>A ENSP00000255078.3:p.Gly800Ser
ENST00000539064.5:n.2157G>A
ENST00000543739.5:n.1391G>A
NM_002180.2:c.2398G>A , LRG_250t1:c.2398G>A NP_002171.2:p.Gly800Ser
XM_005273974.2:c.1387G>A XP_005274031.1:p.Gly463Ser
XM_005273975.2:c.1270G>A XP_005274032.1:p.Gly424Ser
XM_011544994.1:c.1165G>A XP_011543296.1:p.Gly389Ser
XR_949903.1:n.2500G>A
XM_005273975.3:c.1270G>A XP_005274032.1:p.Gly424Ser
XM_017017669.2:c.1387G>A XP_016873158.1:p.Gly463Ser
XM_017017670.2:c.1387G>A XP_016873159.1:p.Gly463Ser
XR_949903.3:n.2496G>A
NM_002180.3:c.2398G>A MANE Select NP_002171.2:p.Gly800Ser