Canonical Allele Identifier: CA6153887

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 305853
• ClinVar RCV Id: RCV000309657 ; RCV000529178 ; RCV001171658 ; RCV001174186 ; RCV002446558
• dbSNP Id: rs147954772
• ExAC: 11:68704303 G / A
• gnomAD v2: 11-68704303-G-A
• gnomAD v3: 11-68936835-G-A
• gnomAD v4: 11-68936835-G-A
• MyVariant Identifiers: chr11:g.68704303G>A (hg19) ; chr11:g.68936835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936835G>A , CM000673.2:g.68936835G>A	GRCh38
NC_000011.9:g.68704303G>A , CM000673.1:g.68704303G>A	GRCh37
NC_000011.8:g.68460879G>A	NCBI36
NG_007976.1:g.37985G>A , LRG_250:g.37985G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2355G>A MANE Select	ENSP00000255078.4:p.Arg785=
ENST00000674675.1:c.587+12G>A
ENST00000674878.1:c.547+52G>A
ENST00000674955.1:c.*1072G>A	ENSP00000502463.1:n.*1072G>A
ENST00000675118.1:c.1843G>A
ENST00000675389.1:n.630G>A
ENST00000675615.1:c.2355G>A	ENSP00000502413.1:p.Arg785=
ENST00000675648.1:n.1730G>A
ENST00000675916.1:c.599G>A
ENST00000676173.1:n.3100G>A
ENST00000676182.1:c.786G>A
ENST00000676228.1:c.*1678G>A	ENSP00000502375.1:n.*1678G>A
ENST00000255078.7:c.2355G>A	ENSP00000255078.3:p.Arg785=
ENST00000539064.5:n.2114G>A
ENST00000543739.5:n.1348G>A
NM_002180.2:c.2355G>A , LRG_250t1:c.2355G>A	NP_002171.2:p.Arg785=
XM_005273974.2:c.1344G>A	XP_005274031.1:p.Arg448=
XM_005273975.2:c.1227G>A	XP_005274032.1:p.Arg409=
XM_011544994.1:c.1122G>A	XP_011543296.1:p.Arg374=
XR_949903.1:n.2457G>A
XM_005273975.3:c.1227G>A	XP_005274032.1:p.Arg409=
XM_017017669.2:c.1344G>A	XP_016873158.1:p.Arg448=
XM_017017670.2:c.1344G>A	XP_016873159.1:p.Arg448=
XR_949903.3:n.2453G>A
NM_002180.3:c.2355G>A MANE Select	NP_002171.2:p.Arg785=