Canonical Allele Identifier: CA6153868
Gene: IGHMBP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439816
dbSNP Id: rs200499838

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936740G>A , CM000673.2:g.68936740G>A GRCh38
NC_000011.9:g.68704208G>A , CM000673.1:g.68704208G>A GRCh37
NC_000011.8:g.68460784G>A NCBI36
NG_007976.1:g.37890G>A , LRG_250:g.37890G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2260G>A MANE Select ENSP00000255078.4:p.Asp754Asn
ENST00000674675.1:c.504G>A
ENST00000674878.1:c.504G>A
ENST00000674955.1:c.*977G>A ENSP00000502463.1:n.*977G>A
ENST00000675118.1:c.1748G>A
ENST00000675389.1:n.535G>A
ENST00000675615.1:c.2260G>A ENSP00000502413.1:p.Asp754Asn
ENST00000675648.1:n.1635G>A
ENST00000675916.1:c.504G>A
ENST00000676173.1:n.3005G>A
ENST00000676182.1:c.691G>A
ENST00000676228.1:c.*1583G>A ENSP00000502375.1:n.*1583G>A
ENST00000255078.7:c.2260G>A ENSP00000255078.3:p.Asp754Asn
ENST00000539064.5:n.2019G>A
ENST00000543739.5:n.1253G>A
NM_002180.2:c.2260G>A , LRG_250t1:c.2260G>A NP_002171.2:p.Asp754Asn
XM_005273974.2:c.1249G>A XP_005274031.1:p.Asp417Asn
XM_005273975.2:c.1132G>A XP_005274032.1:p.Asp378Asn
XM_011544994.1:c.1027G>A XP_011543296.1:p.Asp343Asn
XR_949903.1:n.2362G>A
XM_005273975.3:c.1132G>A XP_005274032.1:p.Asp378Asn
XM_017017669.2:c.1249G>A XP_016873158.1:p.Asp417Asn
XM_017017670.2:c.1249G>A XP_016873159.1:p.Asp417Asn
XR_949903.3:n.2358G>A
NM_002180.3:c.2260G>A MANE Select NP_002171.2:p.Asp754Asn