Canonical Allele Identifier: CA381653763
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936966A>T , CM000673.2:g.68936966A>T GRCh38
NC_000011.9:g.68704434A>T , CM000673.1:g.68704434A>T GRCh37
NC_000011.8:g.68461010A>T NCBI36
NG_007976.1:g.38116A>T , LRG_250:g.38116A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2486A>T MANE Select ENSP00000255078.4:p.Asp829Val
ENST00000674675.1:c.631A>T
ENST00000674878.1:c.591A>T
ENST00000675118.1:c.1974A>T
ENST00000675389.1:n.761A>T
ENST00000675615.1:c.2486A>T ENSP00000502413.1:p.Asp829Val
ENST00000675648.1:n.1861A>T
ENST00000675916.1:c.730A>T
ENST00000676173.1:n.3231A>T
ENST00000676182.1:c.917A>T
ENST00000676228.1:c.*1809A>T ENSP00000502375.1:n.*1809A>T
ENST00000255078.7:c.2486A>T ENSP00000255078.3:p.Asp829Val
ENST00000539064.5:n.2245A>T
ENST00000543739.5:n.1479A>T
NM_002180.2:c.2486A>T , LRG_250t1:c.2486A>T NP_002171.2:p.Asp829Val
XM_005273974.2:c.1475A>T XP_005274031.1:p.Asp492Val
XM_005273975.2:c.1358A>T XP_005274032.1:p.Asp453Val
XM_011544994.1:c.1253A>T XP_011543296.1:p.Asp418Val
XR_949903.1:n.2588A>T
XM_005273975.3:c.1358A>T XP_005274032.1:p.Asp453Val
XM_017017669.2:c.1475A>T XP_016873158.1:p.Asp492Val
XM_017017670.2:c.1475A>T XP_016873159.1:p.Asp492Val
XR_949903.3:n.2584A>T
NM_002180.3:c.2486A>T MANE Select NP_002171.2:p.Asp829Val