Canonical Allele Identifier: CA381653801
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936986G>T , CM000673.2:g.68936986G>T GRCh38
NC_000011.9:g.68704454G>T , CM000673.1:g.68704454G>T GRCh37
NC_000011.8:g.68461030G>T NCBI36
NG_007976.1:g.38136G>T , LRG_250:g.38136G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2506G>T MANE Select ENSP00000255078.4:p.Glu836Ter
ENST00000674675.1:c.651G>T
ENST00000674878.1:c.611G>T
ENST00000675118.1:c.1994G>T
ENST00000675389.1:n.781G>T
ENST00000675615.1:c.2506G>T ENSP00000502413.1:p.Glu836Ter
ENST00000675648.1:n.1881G>T
ENST00000675916.1:c.750G>T
ENST00000676173.1:n.3251G>T
ENST00000676182.1:c.937G>T
ENST00000676228.1:c.*1829G>T ENSP00000502375.1:n.*1829G>T
ENST00000255078.7:c.2506G>T ENSP00000255078.3:p.Glu836Ter
ENST00000539064.5:n.2265G>T
ENST00000543739.5:n.1499G>T
NM_002180.2:c.2506G>T , LRG_250t1:c.2506G>T NP_002171.2:p.Glu836Ter
XM_005273974.2:c.1495G>T XP_005274031.1:p.Glu499Ter
XM_005273975.2:c.1378G>T XP_005274032.1:p.Glu460Ter
XM_011544994.1:c.1273G>T XP_011543296.1:p.Glu425Ter
XR_949903.1:n.2608G>T
XM_005273975.3:c.1378G>T XP_005274032.1:p.Glu460Ter
XM_017017669.2:c.1495G>T XP_016873158.1:p.Glu499Ter
XM_017017670.2:c.1495G>T XP_016873159.1:p.Glu499Ter
XR_949903.3:n.2604G>T
NM_002180.3:c.2506G>T MANE Select NP_002171.2:p.Glu836Ter