Canonical Allele Identifier: CA381653860
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68937006G>T , CM000673.2:g.68937006G>T GRCh38
NC_000011.9:g.68704474G>T , CM000673.1:g.68704474G>T GRCh37
NC_000011.8:g.68461050G>T NCBI36
NG_007976.1:g.38156G>T , LRG_250:g.38156G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2526G>T MANE Select ENSP00000255078.4:p.Arg842Ser
ENST00000674675.1:c.671G>T
ENST00000674878.1:c.631G>T
ENST00000675118.1:c.2014G>T
ENST00000675389.1:n.801G>T
ENST00000675615.1:c.2526G>T ENSP00000502413.1:p.Arg842Ser
ENST00000675648.1:n.1901G>T
ENST00000675916.1:c.770G>T
ENST00000676173.1:n.3271G>T
ENST00000676182.1:c.957G>T
ENST00000676228.1:c.*1849G>T ENSP00000502375.1:n.*1849G>T
ENST00000255078.7:c.2526G>T ENSP00000255078.3:p.Arg842Ser
ENST00000539064.5:n.2285G>T
ENST00000543739.5:n.1519G>T
NM_002180.2:c.2526G>T , LRG_250t1:c.2526G>T NP_002171.2:p.Arg842Ser
XM_005273974.2:c.1515G>T XP_005274031.1:p.Arg505Ser
XM_005273975.2:c.1398G>T XP_005274032.1:p.Arg466Ser
XM_011544994.1:c.1293G>T XP_011543296.1:p.Arg431Ser
XR_949903.1:n.2628G>T
XM_005273975.3:c.1398G>T XP_005274032.1:p.Arg466Ser
XM_017017669.2:c.1515G>T XP_016873158.1:p.Arg505Ser
XM_017017670.2:c.1515G>T XP_016873159.1:p.Arg505Ser
XR_949903.3:n.2624G>T
NM_002180.3:c.2526G>T MANE Select NP_002171.2:p.Arg842Ser