Canonical Allele Identifier: CA475280104
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704136C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936668C>A , CM000673.2:g.68936668C>A GRCh38
NC_000011.9:g.68704136C>A , CM000673.1:g.68704136C>A GRCh37
NC_000011.8:g.68460712C>A NCBI36
NG_007976.1:g.37818C>A , LRG_250:g.37818C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2188C>A MANE Select ENSP00000255078.4:p.Arg730=
ENST00000674675.1:c.432C>A
ENST00000674878.1:c.432C>A
ENST00000674955.1:c.*905C>A ENSP00000502463.1:n.*905C>A
ENST00000675118.1:c.1676C>A
ENST00000675389.1:n.463C>A
ENST00000675615.1:c.2188C>A ENSP00000502413.1:p.Arg730=
ENST00000675648.1:n.1563C>A
ENST00000675916.1:c.432C>A
ENST00000676173.1:n.2933C>A
ENST00000676182.1:c.619C>A
ENST00000676228.1:c.*1511C>A ENSP00000502375.1:n.*1511C>A
ENST00000255078.7:c.2188C>A ENSP00000255078.3:p.Arg730=
ENST00000539064.5:n.1947C>A
ENST00000543739.5:n.1181C>A
NM_002180.2:c.2188C>A , LRG_250t1:c.2188C>A NP_002171.2:p.Arg730=
XM_005273974.2:c.1177C>A XP_005274031.1:p.Arg393=
XM_005273975.2:c.1060C>A XP_005274032.1:p.Arg354=
XM_011544994.1:c.955C>A XP_011543296.1:p.Arg319=
XR_949903.1:n.2290C>A
XM_005273975.3:c.1060C>A XP_005274032.1:p.Arg354=
XM_017017669.2:c.1177C>A XP_016873158.1:p.Arg393=
XM_017017670.2:c.1177C>A XP_016873159.1:p.Arg393=
XR_949903.3:n.2286C>A
NM_002180.3:c.2188C>A MANE Select NP_002171.2:p.Arg730=