Canonical Allele Identifier: CA381652783
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936567A>T , CM000673.2:g.68936567A>T GRCh38
NC_000011.9:g.68704035A>T , CM000673.1:g.68704035A>T GRCh37
NC_000011.8:g.68460611A>T NCBI36
NG_007976.1:g.37717A>T , LRG_250:g.37717A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2087A>T MANE Select ENSP00000255078.4:p.Lys696Met
ENST00000674675.1:c.331A>T
ENST00000674878.1:c.331A>T
ENST00000674955.1:c.*804A>T ENSP00000502463.1:n.*804A>T
ENST00000675118.1:c.1575A>T
ENST00000675389.1:n.362A>T
ENST00000675615.1:c.2087A>T ENSP00000502413.1:p.Lys696Met
ENST00000675648.1:n.1462A>T
ENST00000675916.1:c.331A>T
ENST00000676173.1:n.2832A>T
ENST00000676182.1:c.518A>T
ENST00000676228.1:c.*1410A>T ENSP00000502375.1:n.*1410A>T
ENST00000255078.7:c.2087A>T ENSP00000255078.3:p.Lys696Met
ENST00000539064.5:n.1846A>T
ENST00000543739.5:n.1080A>T
NM_002180.2:c.2087A>T , LRG_250t1:c.2087A>T NP_002171.2:p.Lys696Met
XM_005273974.2:c.1076A>T XP_005274031.1:p.Lys359Met
XM_005273975.2:c.959A>T XP_005274032.1:p.Lys320Met
XM_011544994.1:c.854A>T XP_011543296.1:p.Lys285Met
XR_949903.1:n.2189A>T
XM_005273975.3:c.959A>T XP_005274032.1:p.Lys320Met
XM_017017669.2:c.1076A>T XP_016873158.1:p.Lys359Met
XM_017017670.2:c.1076A>T XP_016873159.1:p.Lys359Met
XR_949903.3:n.2185A>T
NM_002180.3:c.2087A>T MANE Select NP_002171.2:p.Lys696Met