Canonical Allele Identifier: CA6153780

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 917019
• ClinVar RCV Id: RCV001173350 ; RCV001873614 ; RCV003132250
• dbSNP Id: rs199770424
• ExAC: 11:68703743 G / A
• gnomAD v2: 11-68703743-G-A
• gnomAD v3: 11-68936275-G-A
• gnomAD v4: 11-68936275-G-A
• MyVariant Identifiers: chr11:g.68703743G>A (hg19) ; chr11:g.68936275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936275G>A , CM000673.2:g.68936275G>A	GRCh38
NC_000011.9:g.68703743G>A , CM000673.1:g.68703743G>A	GRCh37
NC_000011.8:g.68460319G>A	NCBI36
NG_007976.1:g.37425G>A , LRG_250:g.37425G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1795G>A MANE Select	ENSP00000255078.4:p.Val599Met
ENST00000674675.1:c.39G>A
ENST00000674878.1:c.39G>A
ENST00000674955.1:c.*512G>A	ENSP00000502463.1:n.*512G>A
ENST00000675118.1:c.1283G>A
ENST00000675389.1:n.70G>A
ENST00000675615.1:c.1795G>A	ENSP00000502413.1:p.Val599Met
ENST00000675648.1:n.1170G>A
ENST00000675916.1:c.39G>A
ENST00000676173.1:n.2540G>A
ENST00000676182.1:c.226G>A
ENST00000676228.1:c.*1118G>A	ENSP00000502375.1:n.*1118G>A
ENST00000255078.7:c.1795G>A	ENSP00000255078.3:p.Val599Met
ENST00000539064.5:n.1554G>A
ENST00000541229.5:n.490G>A
ENST00000543739.5:n.788G>A
ENST00000545475.1:n.391G>A
NM_002180.2:c.1795G>A , LRG_250t1:c.1795G>A	NP_002171.2:p.Val599Met
XM_005273974.2:c.784G>A	XP_005274031.1:p.Val262Met
XM_005273975.2:c.667G>A	XP_005274032.1:p.Val223Met
XM_011544994.1:c.562G>A	XP_011543296.1:p.Val188Met
XR_949903.1:n.1897G>A
XM_005273975.3:c.667G>A	XP_005274032.1:p.Val223Met
XM_017017669.2:c.784G>A	XP_016873158.1:p.Val262Met
XM_017017670.2:c.784G>A	XP_016873159.1:p.Val262Met
XR_949903.3:n.1893G>A
NM_002180.3:c.1795G>A MANE Select	NP_002171.2:p.Val599Met