Canonical Allele Identifier: CA381653309
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936809A>T , CM000673.2:g.68936809A>T GRCh38
NC_000011.9:g.68704277A>T , CM000673.1:g.68704277A>T GRCh37
NC_000011.8:g.68460853A>T NCBI36
NG_007976.1:g.37959A>T , LRG_250:g.37959A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2329A>T MANE Select ENSP00000255078.4:p.Arg777Trp
ENST00000674675.1:c.573A>T
ENST00000674878.1:c.547+26A>T
ENST00000674955.1:c.*1046A>T ENSP00000502463.1:n.*1046A>T
ENST00000675118.1:c.1817A>T
ENST00000675389.1:n.604A>T
ENST00000675615.1:c.2329A>T ENSP00000502413.1:p.Arg777Trp
ENST00000675648.1:n.1704A>T
ENST00000675916.1:c.573A>T
ENST00000676173.1:n.3074A>T
ENST00000676182.1:c.760A>T
ENST00000676228.1:c.*1652A>T ENSP00000502375.1:n.*1652A>T
ENST00000255078.7:c.2329A>T ENSP00000255078.3:p.Arg777Trp
ENST00000539064.5:n.2088A>T
ENST00000543739.5:n.1322A>T
NM_002180.2:c.2329A>T , LRG_250t1:c.2329A>T NP_002171.2:p.Arg777Trp
XM_005273974.2:c.1318A>T XP_005274031.1:p.Arg440Trp
XM_005273975.2:c.1201A>T XP_005274032.1:p.Arg401Trp
XM_011544994.1:c.1096A>T XP_011543296.1:p.Arg366Trp
XR_949903.1:n.2431A>T
XM_005273975.3:c.1201A>T XP_005274032.1:p.Arg401Trp
XM_017017669.2:c.1318A>T XP_016873158.1:p.Arg440Trp
XM_017017670.2:c.1318A>T XP_016873159.1:p.Arg440Trp
XR_949903.3:n.2427A>T
NM_002180.3:c.2329A>T MANE Select NP_002171.2:p.Arg777Trp