Canonical Allele Identifier: CA381644831
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917787G>A , CM000673.2:g.68917787G>A GRCh38
NC_000011.9:g.68685255G>A , CM000673.1:g.68685255G>A GRCh37
NC_000011.8:g.68441831G>A NCBI36
NG_007976.1:g.18937G>A , LRG_250:g.18937G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.964G>A MANE Select ENSP00000255078.4:p.Glu322Lys
ENST00000674745.1:c.52G>A ENSP00000502738.1:p.Glu18Lys
ENST00000674775.1:n.52G>A
ENST00000674955.1:c.964G>A ENSP00000502463.1:p.Glu322Lys
ENST00000675118.1:c.452G>A
ENST00000675119.1:c.391G>A ENSP00000501861.1:n.391G>A
ENST00000675305.1:c.284G>A ENSP00000502365.1:n.284G>A
ENST00000675464.1:c.247G>A ENSP00000502650.1:p.Glu83Lys
ENST00000675493.1:n.52G>A
ENST00000675615.1:c.964G>A ENSP00000502413.1:p.Glu322Lys
ENST00000675648.1:n.339G>A
ENST00000675683.1:c.351G>A
ENST00000675684.1:c.52G>A ENSP00000502192.1:p.Glu18Lys
ENST00000676173.1:n.1008G>A
ENST00000676228.1:c.*287G>A ENSP00000502375.1:n.*287G>A
ENST00000255078.7:c.964G>A ENSP00000255078.3:p.Glu322Lys
NM_002180.2:c.964G>A , LRG_250t1:c.964G>A NP_002171.2:p.Glu322Lys
XM_005273974.2:c.-48G>A XP_005274031.1:n.-48G>A
XM_005273976.1:c.964G>A XP_005274033.1:p.Glu322Lys
XR_247198.1:n.1066G>A
XR_949903.1:n.1066G>A
XM_005273976.2:c.964G>A XP_005274033.1:p.Glu322Lys
XM_017017669.2:c.-48G>A XP_016873158.1:n.-48G>A
XM_017017670.2:c.-48G>A XP_016873159.1:n.-48G>A
XM_017017671.2:c.964G>A XP_016873160.1:p.Glu322Lys
XR_949903.3:n.1062G>A
NM_002180.3:c.964G>A MANE Select NP_002171.2:p.Glu322Lys