Canonical Allele Identifier: CA475280866
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704357C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936889C>A , CM000673.2:g.68936889C>A GRCh38
NC_000011.9:g.68704357C>A , CM000673.1:g.68704357C>A GRCh37
NC_000011.8:g.68460933C>A NCBI36
NG_007976.1:g.38039C>A , LRG_250:g.38039C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2409C>A MANE Select ENSP00000255078.4:p.Ala803=
ENST00000674675.1:c.588-34C>A
ENST00000674878.1:c.548-34C>A
ENST00000675118.1:c.1897C>A
ENST00000675389.1:n.684C>A
ENST00000675615.1:c.2409C>A ENSP00000502413.1:p.Ala803=
ENST00000675648.1:n.1784C>A
ENST00000675916.1:c.653C>A
ENST00000676173.1:n.3154C>A
ENST00000676182.1:c.840C>A
ENST00000676228.1:c.*1732C>A ENSP00000502375.1:n.*1732C>A
ENST00000255078.7:c.2409C>A ENSP00000255078.3:p.Ala803=
ENST00000539064.5:n.2168C>A
ENST00000543739.5:n.1402C>A
NM_002180.2:c.2409C>A , LRG_250t1:c.2409C>A NP_002171.2:p.Ala803=
XM_005273974.2:c.1398C>A XP_005274031.1:p.Ala466=
XM_005273975.2:c.1281C>A XP_005274032.1:p.Ala427=
XM_011544994.1:c.1176C>A XP_011543296.1:p.Ala392=
XR_949903.1:n.2511C>A
XM_005273975.3:c.1281C>A XP_005274032.1:p.Ala427=
XM_017017669.2:c.1398C>A XP_016873158.1:p.Ala466=
XM_017017670.2:c.1398C>A XP_016873159.1:p.Ala466=
XR_949903.3:n.2507C>A
NM_002180.3:c.2409C>A MANE Select NP_002171.2:p.Ala803=