Canonical Allele Identifier: CA2580084783

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 2130513
• ClinVar RCV Id: RCV003052120

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936399_68936400dup , CM000673.2:g.68936399_68936400dup	GRCh38
NC_000011.9:g.68703867_68703868dup , CM000673.1:g.68703867_68703868dup	GRCh37
NC_000011.8:g.68460443_68460444dup	NCBI36
NG_007976.1:g.37549_37550dup , LRG_250:g.37549_37550dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1919_1920dup MANE Select	ENSP00000255078.4:p.Glu641LeufsTer?
ENST00000674675.1:c.163_164dup
ENST00000674878.1:c.163_164dup
ENST00000674955.1:c.*636_*637dup	ENSP00000502463.1:n.*636_*637dup
ENST00000675118.1:c.1407_1408dup
ENST00000675389.1:n.194_195dup
ENST00000675615.1:c.1919_1920dup	ENSP00000502413.1:p.Glu641LeufsTer?
ENST00000675648.1:n.1294_1295dup
ENST00000675916.1:c.163_164dup
ENST00000676173.1:n.2664_2665dup
ENST00000676182.1:c.350_351dup
ENST00000676228.1:c.*1242_*1243dup	ENSP00000502375.1:n.*1242_*1243dup
ENST00000255078.7:c.1919_1920dup	ENSP00000255078.3:p.Glu641LeufsTer?
ENST00000539064.5:n.1678_1679dup
ENST00000543739.5:n.912_913dup
ENST00000545475.1:n.515_516dup
NM_002180.2:c.1919_1920dup , LRG_250t1:c.1919_1920dup	NP_002171.2:p.Glu641LeufsTer?
XM_005273974.2:c.908_909dup	XP_005274031.1:p.Glu304LeufsTer?
XM_005273975.2:c.791_792dup	XP_005274032.1:p.Glu265LeufsTer?
XM_011544994.1:c.686_687dup	XP_011543296.1:p.Glu230LeufsTer?
XR_949903.1:n.2021_2022dup
XM_005273975.3:c.791_792dup	XP_005274032.1:p.Glu265LeufsTer?
XM_017017669.2:c.908_909dup	XP_016873158.1:p.Glu304LeufsTer?
XM_017017670.2:c.908_909dup	XP_016873159.1:p.Glu304LeufsTer?
XR_949903.3:n.2017_2018dup
NM_002180.3:c.1919_1920dup MANE Select	NP_002171.2:p.Glu641LeufsTer?