Canonical Allele Identifier: CA381653182
Gene: IGHMBP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68936753T>A , CM000673.2:g.68936753T>A GRCh38
NC_000011.9:g.68704221T>A , CM000673.1:g.68704221T>A GRCh37
NC_000011.8:g.68460797T>A NCBI36
NG_007976.1:g.37903T>A , LRG_250:g.37903T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000255078.8:c.2273T>A MANE Select ENSP00000255078.4:p.Val758Asp
ENST00000674675.1:c.517T>A
ENST00000674878.1:c.517T>A
ENST00000674955.1:c.*990T>A ENSP00000502463.1:n.*990T>A
ENST00000675118.1:c.1761T>A
ENST00000675389.1:n.548T>A
ENST00000675615.1:c.2273T>A ENSP00000502413.1:p.Val758Asp
ENST00000675648.1:n.1648T>A
ENST00000675916.1:c.517T>A
ENST00000676173.1:n.3018T>A
ENST00000676182.1:c.704T>A
ENST00000676228.1:c.*1596T>A ENSP00000502375.1:n.*1596T>A
ENST00000255078.7:c.2273T>A ENSP00000255078.3:p.Val758Asp
ENST00000539064.5:n.2032T>A
ENST00000543739.5:n.1266T>A
NM_002180.2:c.2273T>A , LRG_250t1:c.2273T>A NP_002171.2:p.Val758Asp
XM_005273974.2:c.1262T>A XP_005274031.1:p.Val421Asp
XM_005273975.2:c.1145T>A XP_005274032.1:p.Val382Asp
XM_011544994.1:c.1040T>A XP_011543296.1:p.Val347Asp
XR_949903.1:n.2375T>A
XM_005273975.3:c.1145T>A XP_005274032.1:p.Val382Asp
XM_017017669.2:c.1262T>A XP_016873158.1:p.Val421Asp
XM_017017670.2:c.1262T>A XP_016873159.1:p.Val421Asp
XR_949903.3:n.2371T>A
NM_002180.3:c.2273T>A MANE Select NP_002171.2:p.Val758Asp