Canonical Allele Identifier: CA6153903

Gene: IGHMBP2

Linked Data

• ClinVar Variation Id: 517688
• ClinVar RCV Id: RCV001719141 ; RCV002066831 ; RCV002448907
• dbSNP Id: rs757779436
• ExAC: 11:68704342 G / C
• gnomAD v2: 11-68704342-G-C
• gnomAD v4: 11-68936874-G-C
• MyVariant Identifiers: chr11:g.68704342G>C (hg19) ; chr11:g.68936874G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68936874G>C , CM000673.2:g.68936874G>C	GRCh38
NC_000011.9:g.68704342G>C , CM000673.1:g.68704342G>C	GRCh37
NC_000011.8:g.68460918G>C	NCBI36
NG_007976.1:g.38024G>C , LRG_250:g.38024G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000255078.8:c.2394G>C MANE Select	ENSP00000255078.4:p.Gly798=
ENST00000674675.1:c.588-49G>C
ENST00000674878.1:c.548-49G>C
ENST00000675118.1:c.1882G>C
ENST00000675389.1:n.669G>C
ENST00000675615.1:c.2394G>C	ENSP00000502413.1:p.Gly798=
ENST00000675648.1:n.1769G>C
ENST00000675916.1:c.638G>C
ENST00000676173.1:n.3139G>C
ENST00000676182.1:c.825G>C
ENST00000676228.1:c.*1717G>C	ENSP00000502375.1:n.*1717G>C
ENST00000255078.7:c.2394G>C	ENSP00000255078.3:p.Gly798=
ENST00000539064.5:n.2153G>C
ENST00000543739.5:n.1387G>C
NM_002180.2:c.2394G>C , LRG_250t1:c.2394G>C	NP_002171.2:p.Gly798=
XM_005273974.2:c.1383G>C	XP_005274031.1:p.Gly461=
XM_005273975.2:c.1266G>C	XP_005274032.1:p.Gly422=
XM_011544994.1:c.1161G>C	XP_011543296.1:p.Gly387=
XR_949903.1:n.2496G>C
XM_005273975.3:c.1266G>C	XP_005274032.1:p.Gly422=
XM_017017669.2:c.1383G>C	XP_016873158.1:p.Gly461=
XM_017017670.2:c.1383G>C	XP_016873159.1:p.Gly461=
XR_949903.3:n.2492G>C
NM_002180.3:c.2394G>C MANE Select	NP_002171.2:p.Gly798=