Canonical Allele Identifier: CA6153892

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 845818
• ClinVar RCV Id: RCV001048958
• dbSNP Id: rs769685389
• ExAC: 11:68704311 G / C
• gnomAD v2: 11-68704311-G-C
• gnomAD v3: 11-68936843-G-C
• gnomAD v4: 11-68936843-G-C
• MyVariant Identifiers: chr11:g.68704311G>C (hg19) ; chr11:g.68936843G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936843G>C , CM000673.2:g.68936843G>C	GRCh38
NC_000011.9:g.68704311G>C , CM000673.1:g.68704311G>C	GRCh37
NC_000011.8:g.68460887G>C	NCBI36
NG_007976.1:g.37993G>C , LRG_250:g.37993G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255078.8:c.2363G>C MANE Select	ENSP00000255078.4:p.Arg788Pro
ENST00000674675.1:c.587+20G>C
ENST00000674878.1:c.547+60G>C
ENST00000674955.1:c.*1080G>C	ENSP00000502463.1:n.*1080G>C
ENST00000675118.1:c.1851G>C
ENST00000675389.1:n.638G>C
ENST00000675615.1:c.2363G>C	ENSP00000502413.1:p.Arg788Pro
ENST00000675648.1:n.1738G>C
ENST00000675916.1:c.607G>C
ENST00000676173.1:n.3108G>C
ENST00000676182.1:c.794G>C
ENST00000676228.1:c.*1686G>C	ENSP00000502375.1:n.*1686G>C
ENST00000255078.7:c.2363G>C	ENSP00000255078.3:p.Arg788Pro
ENST00000539064.5:n.2122G>C
ENST00000543739.5:n.1356G>C
NM_002180.2:c.2363G>C , LRG_250t1:c.2363G>C	NP_002171.2:p.Arg788Pro
XM_005273974.2:c.1352G>C	XP_005274031.1:p.Arg451Pro
XM_005273975.2:c.1235G>C	XP_005274032.1:p.Arg412Pro
XM_011544994.1:c.1130G>C	XP_011543296.1:p.Arg377Pro
XR_949903.1:n.2465G>C
XM_005273975.3:c.1235G>C	XP_005274032.1:p.Arg412Pro
XM_017017669.2:c.1352G>C	XP_016873158.1:p.Arg451Pro
XM_017017670.2:c.1352G>C	XP_016873159.1:p.Arg451Pro
XR_949903.3:n.2461G>C
NM_002180.3:c.2363G>C MANE Select	NP_002171.2:p.Arg788Pro