Canonical Allele Identifier: CA381644880
Gene: IGHMBP2 HGNC NCBI

Linked Data

COSMIC: COSM931325

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68917808G>T , CM000673.2:g.68917808G>T GRCh38
NC_000011.9:g.68685276G>T , CM000673.1:g.68685276G>T GRCh37
NC_000011.8:g.68441852G>T NCBI36
NG_007976.1:g.18958G>T , LRG_250:g.18958G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.985G>T MANE Select ENSP00000255078.4:p.Glu329Ter
ENST00000674745.1:c.73G>T ENSP00000502738.1:p.Glu25Ter
ENST00000674775.1:n.73G>T
ENST00000674955.1:c.985G>T ENSP00000502463.1:p.Glu329Ter
ENST00000675118.1:c.473G>T
ENST00000675119.1:c.412G>T ENSP00000501861.1:n.412G>T
ENST00000675305.1:c.305G>T ENSP00000502365.1:n.305G>T
ENST00000675464.1:c.268G>T ENSP00000502650.1:p.Glu90Ter
ENST00000675493.1:n.73G>T
ENST00000675615.1:c.985G>T ENSP00000502413.1:p.Glu329Ter
ENST00000675648.1:n.360G>T
ENST00000675683.1:c.372G>T
ENST00000675684.1:c.73G>T ENSP00000502192.1:p.Glu25Ter
ENST00000676173.1:n.1029G>T
ENST00000676228.1:c.*308G>T ENSP00000502375.1:n.*308G>T
ENST00000255078.7:c.985G>T ENSP00000255078.3:p.Glu329Ter
NM_002180.2:c.985G>T , LRG_250t1:c.985G>T NP_002171.2:p.Glu329Ter
XM_005273974.2:c.-27G>T XP_005274031.1:n.-27G>T
XM_005273976.1:c.985G>T XP_005274033.1:p.Glu329Ter
XR_247198.1:n.1087G>T
XR_949903.1:n.1087G>T
XM_005273976.2:c.985G>T XP_005274033.1:p.Glu329Ter
XM_017017669.2:c.-27G>T XP_016873158.1:n.-27G>T
XM_017017670.2:c.-27G>T XP_016873159.1:n.-27G>T
XM_017017671.2:c.985G>T XP_016873160.1:p.Glu329Ter
XR_949903.3:n.1083G>T
NM_002180.3:c.985G>T MANE Select NP_002171.2:p.Glu329Ter