Canonical Allele Identifier: CA381644903
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917819G>C , CM000673.2:g.68917819G>C GRCh38
NC_000011.9:g.68685287G>C , CM000673.1:g.68685287G>C GRCh37
NC_000011.8:g.68441863G>C NCBI36
NG_007976.1:g.18969G>C , LRG_250:g.18969G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.996G>C MANE Select ENSP00000255078.4:p.Glu332Asp
ENST00000674745.1:c.84G>C ENSP00000502738.1:p.Glu28Asp
ENST00000674775.1:n.84G>C
ENST00000674955.1:c.996G>C ENSP00000502463.1:p.Glu332Asp
ENST00000675118.1:c.484G>C
ENST00000675119.1:c.423G>C ENSP00000501861.1:n.423G>C
ENST00000675305.1:c.316G>C ENSP00000502365.1:n.316G>C
ENST00000675464.1:c.279G>C ENSP00000502650.1:p.Glu93Asp
ENST00000675493.1:n.84G>C
ENST00000675615.1:c.996G>C ENSP00000502413.1:p.Glu332Asp
ENST00000675648.1:n.371G>C
ENST00000675683.1:c.383G>C
ENST00000675684.1:c.84G>C ENSP00000502192.1:p.Glu28Asp
ENST00000676173.1:n.1040G>C
ENST00000676228.1:c.*319G>C ENSP00000502375.1:n.*319G>C
ENST00000255078.7:c.996G>C ENSP00000255078.3:p.Glu332Asp
NM_002180.2:c.996G>C , LRG_250t1:c.996G>C NP_002171.2:p.Glu332Asp
XM_005273974.2:c.-16G>C XP_005274031.1:n.-16G>C
XM_005273976.1:c.996G>C XP_005274033.1:p.Glu332Asp
XR_247198.1:n.1098G>C
XR_949903.1:n.1098G>C
XM_005273976.2:c.996G>C XP_005274033.1:p.Glu332Asp
XM_017017669.2:c.-16G>C XP_016873158.1:n.-16G>C
XM_017017670.2:c.-16G>C XP_016873159.1:n.-16G>C
XM_017017671.2:c.996G>C XP_016873160.1:p.Glu332Asp
XR_949903.3:n.1094G>C
NM_002180.3:c.996G>C MANE Select NP_002171.2:p.Glu332Asp