Canonical Allele Identifier: CA6153794

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 447575
• ClinVar RCV Id: RCV000518138 ; RCV000876373 ; RCV001568852 ; RCV002413398 ; RCV001113751
• dbSNP Id: rs370850999
• ExAC: 11:68703793 T / A
• gnomAD v2: 11-68703793-T-A
• gnomAD v3: 11-68936325-T-A
• gnomAD v4: 11-68936325-T-A
• MyVariant Identifiers: chr11:g.68703793T>A (hg19) ; chr11:g.68936325T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936325T>A , CM000673.2:g.68936325T>A	GRCh38
NC_000011.9:g.68703793T>A , CM000673.1:g.68703793T>A	GRCh37
NC_000011.8:g.68460369T>A	NCBI36
NG_007976.1:g.37475T>A , LRG_250:g.37475T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.1845T>A MANE Select	ENSP00000255078.4:p.Arg615=
ENST00000674675.1:c.89T>A
ENST00000674878.1:c.89T>A
ENST00000674955.1:c.*562T>A	ENSP00000502463.1:n.*562T>A
ENST00000675118.1:c.1333T>A
ENST00000675389.1:n.120T>A
ENST00000675615.1:c.1845T>A	ENSP00000502413.1:p.Arg615=
ENST00000675648.1:n.1220T>A
ENST00000675916.1:c.89T>A
ENST00000676173.1:n.2590T>A
ENST00000676182.1:c.276T>A
ENST00000676228.1:c.*1168T>A	ENSP00000502375.1:n.*1168T>A
ENST00000255078.7:c.1845T>A	ENSP00000255078.3:p.Arg615=
ENST00000539064.5:n.1604T>A
ENST00000541229.5:n.540T>A
ENST00000543739.5:n.838T>A
ENST00000545475.1:n.441T>A
NM_002180.2:c.1845T>A , LRG_250t1:c.1845T>A	NP_002171.2:p.Arg615=
XM_005273974.2:c.834T>A	XP_005274031.1:p.Arg278=
XM_005273975.2:c.717T>A	XP_005274032.1:p.Arg239=
XM_011544994.1:c.612T>A	XP_011543296.1:p.Arg204=
XR_949903.1:n.1947T>A
XM_005273975.3:c.717T>A	XP_005274032.1:p.Arg239=
XM_017017669.2:c.834T>A	XP_016873158.1:p.Arg278=
XM_017017670.2:c.834T>A	XP_016873159.1:p.Arg278=
XR_949903.3:n.1943T>A
NM_002180.3:c.1845T>A MANE Select	NP_002171.2:p.Arg615=