Canonical Allele Identifier: CA381653188
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936756A>C , CM000673.2:g.68936756A>C GRCh38
NC_000011.9:g.68704224A>C , CM000673.1:g.68704224A>C GRCh37
NC_000011.8:g.68460800A>C NCBI36
NG_007976.1:g.37906A>C , LRG_250:g.37906A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2276A>C MANE Select ENSP00000255078.4:p.His759Pro
ENST00000674675.1:c.520A>C
ENST00000674878.1:c.520A>C
ENST00000674955.1:c.*993A>C ENSP00000502463.1:n.*993A>C
ENST00000675118.1:c.1764A>C
ENST00000675389.1:n.551A>C
ENST00000675615.1:c.2276A>C ENSP00000502413.1:p.His759Pro
ENST00000675648.1:n.1651A>C
ENST00000675916.1:c.520A>C
ENST00000676173.1:n.3021A>C
ENST00000676182.1:c.707A>C
ENST00000676228.1:c.*1599A>C ENSP00000502375.1:n.*1599A>C
ENST00000255078.7:c.2276A>C ENSP00000255078.3:p.His759Pro
ENST00000539064.5:n.2035A>C
ENST00000543739.5:n.1269A>C
NM_002180.2:c.2276A>C , LRG_250t1:c.2276A>C NP_002171.2:p.His759Pro
XM_005273974.2:c.1265A>C XP_005274031.1:p.His422Pro
XM_005273975.2:c.1148A>C XP_005274032.1:p.His383Pro
XM_011544994.1:c.1043A>C XP_011543296.1:p.His348Pro
XR_949903.1:n.2378A>C
XM_005273975.3:c.1148A>C XP_005274032.1:p.His383Pro
XM_017017669.2:c.1265A>C XP_016873158.1:p.His422Pro
XM_017017670.2:c.1265A>C XP_016873159.1:p.His422Pro
XR_949903.3:n.2374A>C
NM_002180.3:c.2276A>C MANE Select NP_002171.2:p.His759Pro