Canonical Allele Identifier: CA381653588

Gene: IGHMBP2

Linked Data

• MyVariant Identifiers: chr11:g.68704371T>A (hg19) ; chr11:g.68936903T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936903T>A , CM000673.2:g.68936903T>A	GRCh38
NC_000011.9:g.68704371T>A , CM000673.1:g.68704371T>A	GRCh37
NC_000011.8:g.68460947T>A	NCBI36
NG_007976.1:g.38053T>A , LRG_250:g.38053T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2423T>A MANE Select	ENSP00000255078.4:p.Val808Glu
ENST00000674675.1:c.588-20T>A
ENST00000674878.1:c.548-20T>A
ENST00000675118.1:c.1911T>A
ENST00000675389.1:n.698T>A
ENST00000675615.1:c.2423T>A	ENSP00000502413.1:p.Val808Glu
ENST00000675648.1:n.1798T>A
ENST00000675916.1:c.667T>A
ENST00000676173.1:n.3168T>A
ENST00000676182.1:c.854T>A
ENST00000676228.1:c.*1746T>A	ENSP00000502375.1:n.*1746T>A
ENST00000255078.7:c.2423T>A	ENSP00000255078.3:p.Val808Glu
ENST00000539064.5:n.2182T>A
ENST00000543739.5:n.1416T>A
NM_002180.2:c.2423T>A , LRG_250t1:c.2423T>A	NP_002171.2:p.Val808Glu
XM_005273974.2:c.1412T>A	XP_005274031.1:p.Val471Glu
XM_005273975.2:c.1295T>A	XP_005274032.1:p.Val432Glu
XM_011544994.1:c.1190T>A	XP_011543296.1:p.Val397Glu
XR_949903.1:n.2525T>A
XM_005273975.3:c.1295T>A	XP_005274032.1:p.Val432Glu
XM_017017669.2:c.1412T>A	XP_016873158.1:p.Val471Glu
XM_017017670.2:c.1412T>A	XP_016873159.1:p.Val471Glu
XR_949903.3:n.2521T>A
NM_002180.3:c.2423T>A MANE Select	NP_002171.2:p.Val808Glu