Canonical Allele Identifier: CA381653837
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936999G>C , CM000673.2:g.68936999G>C GRCh38
NC_000011.9:g.68704467G>C , CM000673.1:g.68704467G>C GRCh37
NC_000011.8:g.68461043G>C NCBI36
NG_007976.1:g.38149G>C , LRG_250:g.38149G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2519G>C MANE Select ENSP00000255078.4:p.Arg840Thr
ENST00000674675.1:c.664G>C
ENST00000674878.1:c.624G>C
ENST00000675118.1:c.2007G>C
ENST00000675389.1:n.794G>C
ENST00000675615.1:c.2519G>C ENSP00000502413.1:p.Arg840Thr
ENST00000675648.1:n.1894G>C
ENST00000675916.1:c.763G>C
ENST00000676173.1:n.3264G>C
ENST00000676182.1:c.950G>C
ENST00000676228.1:c.*1842G>C ENSP00000502375.1:n.*1842G>C
ENST00000255078.7:c.2519G>C ENSP00000255078.3:p.Arg840Thr
ENST00000539064.5:n.2278G>C
ENST00000543739.5:n.1512G>C
NM_002180.2:c.2519G>C , LRG_250t1:c.2519G>C NP_002171.2:p.Arg840Thr
XM_005273974.2:c.1508G>C XP_005274031.1:p.Arg503Thr
XM_005273975.2:c.1391G>C XP_005274032.1:p.Arg464Thr
XM_011544994.1:c.1286G>C XP_011543296.1:p.Arg429Thr
XR_949903.1:n.2621G>C
XM_005273975.3:c.1391G>C XP_005274032.1:p.Arg464Thr
XM_017017669.2:c.1508G>C XP_016873158.1:p.Arg503Thr
XM_017017670.2:c.1508G>C XP_016873159.1:p.Arg503Thr
XR_949903.3:n.2617G>C
NM_002180.3:c.2519G>C MANE Select NP_002171.2:p.Arg840Thr