Canonical Allele Identifier: CA6153895

Gene: IGHMBP2

Linked Data

• dbSNP Id: rs772408911
• ExAC: 11:68704314 C / A
• gnomAD v2: 11-68704314-C-A
• gnomAD v3: 11-68936846-C-A
• gnomAD v4: 11-68936846-C-A
• MyVariant Identifiers: chr11:g.68704314C>A (hg19) ; chr11:g.68936846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936846C>A , CM000673.2:g.68936846C>A	GRCh38
NC_000011.9:g.68704314C>A , CM000673.1:g.68704314C>A	GRCh37
NC_000011.8:g.68460890C>A	NCBI36
NG_007976.1:g.37996C>A , LRG_250:g.37996C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2366C>A MANE Select	ENSP00000255078.4:p.Pro789His
ENST00000674675.1:c.587+23C>A
ENST00000674878.1:c.547+63C>A
ENST00000674955.1:c.*1083C>A	ENSP00000502463.1:n.*1083C>A
ENST00000675118.1:c.1854C>A
ENST00000675389.1:n.641C>A
ENST00000675615.1:c.2366C>A	ENSP00000502413.1:p.Pro789His
ENST00000675648.1:n.1741C>A
ENST00000675916.1:c.610C>A
ENST00000676173.1:n.3111C>A
ENST00000676182.1:c.797C>A
ENST00000676228.1:c.*1689C>A	ENSP00000502375.1:n.*1689C>A
ENST00000255078.7:c.2366C>A	ENSP00000255078.3:p.Pro789His
ENST00000539064.5:n.2125C>A
ENST00000543739.5:n.1359C>A
NM_002180.2:c.2366C>A , LRG_250t1:c.2366C>A	NP_002171.2:p.Pro789His
XM_005273974.2:c.1355C>A	XP_005274031.1:p.Pro452His
XM_005273975.2:c.1238C>A	XP_005274032.1:p.Pro413His
XM_011544994.1:c.1133C>A	XP_011543296.1:p.Pro378His
XR_949903.1:n.2468C>A
XM_005273975.3:c.1238C>A	XP_005274032.1:p.Pro413His
XM_017017669.2:c.1355C>A	XP_016873158.1:p.Pro452His
XM_017017670.2:c.1355C>A	XP_016873159.1:p.Pro452His
XR_949903.3:n.2464C>A
NM_002180.3:c.2366C>A MANE Select	NP_002171.2:p.Pro789His