Canonical Allele Identifier: CA381653561
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936896C>A , CM000673.2:g.68936896C>A GRCh38
NC_000011.9:g.68704364C>A , CM000673.1:g.68704364C>A GRCh37
NC_000011.8:g.68460940C>A NCBI36
NG_007976.1:g.38046C>A , LRG_250:g.38046C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2416C>A MANE Select ENSP00000255078.4:p.Gln806Lys
ENST00000674675.1:c.588-27C>A
ENST00000674878.1:c.548-27C>A
ENST00000675118.1:c.1904C>A
ENST00000675389.1:n.691C>A
ENST00000675615.1:c.2416C>A ENSP00000502413.1:p.Gln806Lys
ENST00000675648.1:n.1791C>A
ENST00000675916.1:c.660C>A
ENST00000676173.1:n.3161C>A
ENST00000676182.1:c.847C>A
ENST00000676228.1:c.*1739C>A ENSP00000502375.1:n.*1739C>A
ENST00000255078.7:c.2416C>A ENSP00000255078.3:p.Gln806Lys
ENST00000539064.5:n.2175C>A
ENST00000543739.5:n.1409C>A
NM_002180.2:c.2416C>A , LRG_250t1:c.2416C>A NP_002171.2:p.Gln806Lys
XM_005273974.2:c.1405C>A XP_005274031.1:p.Gln469Lys
XM_005273975.2:c.1288C>A XP_005274032.1:p.Gln430Lys
XM_011544994.1:c.1183C>A XP_011543296.1:p.Gln395Lys
XR_949903.1:n.2518C>A
XM_005273975.3:c.1288C>A XP_005274032.1:p.Gln430Lys
XM_017017669.2:c.1405C>A XP_016873158.1:p.Gln469Lys
XM_017017670.2:c.1405C>A XP_016873159.1:p.Gln469Lys
XR_949903.3:n.2514C>A
NM_002180.3:c.2416C>A MANE Select NP_002171.2:p.Gln806Lys