Canonical Allele Identifier: CA475279255
Gene: IGHMBP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68704009A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936541A>G , CM000673.2:g.68936541A>G GRCh38
NC_000011.9:g.68704009A>G , CM000673.1:g.68704009A>G GRCh37
NC_000011.8:g.68460585A>G NCBI36
NG_007976.1:g.37691A>G , LRG_250:g.37691A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255078.8:c.2061A>G MANE Select ENSP00000255078.4:p.Ala687=
ENST00000674675.1:c.305A>G
ENST00000674878.1:c.305A>G
ENST00000674955.1:c.*778A>G ENSP00000502463.1:n.*778A>G
ENST00000675118.1:c.1549A>G
ENST00000675389.1:n.336A>G
ENST00000675615.1:c.2061A>G ENSP00000502413.1:p.Ala687=
ENST00000675648.1:n.1436A>G
ENST00000675916.1:c.305A>G
ENST00000676173.1:n.2806A>G
ENST00000676182.1:c.492A>G
ENST00000676228.1:c.*1384A>G ENSP00000502375.1:n.*1384A>G
ENST00000255078.7:c.2061A>G ENSP00000255078.3:p.Ala687=
ENST00000539064.5:n.1820A>G
ENST00000543739.5:n.1054A>G
NM_002180.2:c.2061A>G , LRG_250t1:c.2061A>G NP_002171.2:p.Ala687=
XM_005273974.2:c.1050A>G XP_005274031.1:p.Ala350=
XM_005273975.2:c.933A>G XP_005274032.1:p.Ala311=
XM_011544994.1:c.828A>G XP_011543296.1:p.Ala276=
XR_949903.1:n.2163A>G
XM_005273975.3:c.933A>G XP_005274032.1:p.Ala311=
XM_017017669.2:c.1050A>G XP_016873158.1:p.Ala350=
XM_017017670.2:c.1050A>G XP_016873159.1:p.Ala350=
XR_949903.3:n.2159A>G
NM_002180.3:c.2061A>G MANE Select NP_002171.2:p.Ala687=